[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"sickle-cell-disease\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:sickle-cell-disease":27},{"pageToken":4,"total":5,"offset":6,"count":7,"results":8},null,157,0,25,[9,46,73,111,138,159,180,202,224,256,292,314,335,364,386,414,432,463,486,507,535,557,580,610,633],{"id":10,"slug":11,"hasResults":12,"nctId":13,"briefTitle":14,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":16,"sex":17,"minAge":18,"maxAge":19,"enrollmentInfo":20,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":24,"conditions":25,"keywords":30,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":34,"lastUpdatePostDateStruct":35,"startDateStruct":38,"completionDateStruct":40,"leadSponsor":42,"locationsCount":45},"100357727","collection-of-human-biospecimens-for-basic-and-clinical-research-into-globin-variants-100357727",false,"NCT03937817","Collection of Human Biospecimens for Basic and Clinical Research Into Globin Variants","* PARTICIPANT INCLUSION CRITERIA:\n\n  1. Aged 18-70 years.\n  2. Able to provide informed consent.\n  3. Willing to allow biological samples to be stored for future research.\n  4. Willing to provide one or more of the following tissues: saliva, urine, blood, blood waste products, adipose tissue, bronchial brushing, and\u002For BAL samples.\n  5. Willing to allow genetic testing on collected biological samples.\n\n     PARTICIPANT EXCLUSION CRITERIA:\n* Exclusion Criteria for All Participants\n\nThe following exclusion criteria apply to all participants who will provide any of the following samples in-person at the NIH CC: saliva, urine, blood, blood waste products, adipose tissue, bronchial brushing, and\u002For BAL samples:\n\n1. Pregnancy.\n2. Positive testing for hepatitis B virus, hepatitis C virus, or HIV (as determined by serum screening tests or relevant viral quantitative studies.)\n3. Any condition that requires active medical intervention or monitoring to avert serious danger to the individual s health or wellbeing.\n4. Any condition that, in the opinion of the PI, contraindicates participation in this study.\n\n   * Additional Exclusion Criteria for Individuals Giving Blood for Research\n\n1\\. Hemoglobin \\\u003C 10 g\u002FdL for healthy female volunteers, \\\u003C 12 g\u002FdL for healthy male volunteers, or \\\u003C 6 g\u002FdL for participants with sickle cell disease or other chronic anemias.\n\n-Additional Exclusion Criteria for Adipose Tissue Biopsy\n\nIndividuals meeting any of the following criteria will be excluded from undergoing adipose tissue biopsy. If the participant no longer meets any of these criteria at a later time, then they will be allowed to undergo this procedure.\n\n1. Currently taking anticoagulation medication.\n2. Platelets \\\u003C 100,000\u002FmicroL.\n3. History of keloid formation (or irregular fibrous tissue formed at the site of a scar or injury).\n4. History of adverse reactions to lidocaine or other local anesthetics.\n5. Any condition that, in the opinion of the PI, contraindicates this procedure.\n\nUse of aspirin (or acetylsalicylic acid) and nonsteroidal anti-inflammatory drugs (NSAIDs) are permitted.\n\n-Additional Exclusion Criteria for Bronchoscopy\n\nIndividuals meeting any of the following criteria will be excluded from undergoing bronchoscopy. If the participant no longer meets any of these criteria at a later time, then they will be allowed to undergo this procedure.\n\n1. Prothrombin time (PT) \\> 1 second above the upper limit of normal (ULN) or international normalized ratio \\> 1.3.\n2. Partial thromboplastin time (PTT) \\> 1 second above ULN.\n3. Platelets \\\u003C 150,000\u002FmicroL.\n4. Currently taking anticoagulation medication.\n5. Use of aspirin within 2 weeks of the bronchoscopy or NSAIDs within 2 days of the bronchoscopy.\n6. Diagnosis of a pulmonary disorder (eg, asthma, chronic bronchitis, cystic fibrosis, or bronchiectasis).\n7. Respiratory tract infection within the last 4 weeks.\n8. History of adverse reactions to systemic and\u002For local anesthetics that will be used for this procedure.\n9. History of cigarette smoking within the past 3 months.\n10. History of chronic opioid use.\n11. History of drug or alcohol abuse.\n12. Post-bronchodilator forced expiratory volume in 1 second (FEV1) \\\u003C 40% of predicted or pre-bronchodilator FEV1 \\\u003C 35% of predicted.\n13. Active bronchospasm on physical examination.\n14. History of lidocaine allergy.\n15. Any condition that, in the opinion of the PI, contraindicates this procedure.\n\nCo-enrollment guidelines: Participants may be co-enrolled in other studies. However, the PI must be notified of co-enrollment.",true,"ALL","18 Years","70 Years",{"count":21,"type":22},300,"ESTIMATED","OBSERVATIONAL","Background:\n\nBlood disorders like sickle cell disease and malaria affect many people around the world. Researchers want to learn more about blood disorders. To do this, they need to collect biological samples from people with blood disorders. They also need to collect samples from healthy people.\n\nObjective:\n\nTo collect samples to use for research on blood disorders.\n\nEligibility:\n\nPeople ages 18-70 who have blood disorders. Healthy volunteers without blood disorders are also needed.\n\nDesign:\n\nParticipants will be screened with a medical history, physical exam, and blood and urine tests.\n\nParticipants will give one or more samples. They will give them over 5 years. They can choose not to give any of the samples:\n\nSaliva: Participants will spit into a tube. They may also have the inside of their mouth swabbed.\n\nUrine: Participants will urinate into a cup.\n\nBlood and blood waste products: Blood will be taken through a needle in the participant s arm.\n\nFat samples: An area on the participant s belly or buttock will be numbed. A small cut will be made into the skin and a small piece of fat removed.\n\nMucus and cells from the lungs: The participant will be sedated. A flexible tube will be inserted through the nose or mouth into the lung airways. These participants will also have a physical exam, chest x-ray, and heart tests after the procedure.\n\n...",[26,27,28,29],"Alpha and Beta Thalassemia","Sickle Cell Disease","Malaria","Human Physiology",[31,28,27,26,32],"Assay Development","Natural History","RECRUITING","2026-08-20",{"date":36,"type":37},"2026-08-21","ACTUAL",{"date":39,"type":37},"2019-09-25",{"date":41,"type":22},"2029-03-31",{"name":43,"class":44},"National Institute of Allergy and Infectious Diseases (NIAID)","NIH",1,{"id":47,"slug":48,"hasResults":12,"nctId":49,"briefTitle":50,"officialTitle":51,"acronym":52,"eligibilityCriteria":53,"healthyVolunteers":12,"sex":17,"minAge":54,"maxAge":55,"enrollmentInfo":56,"targetDuration":4,"studyType":58,"phases":59,"briefSummary":61,"conditions":62,"keywords":4,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":64,"lastUpdatePostDateStruct":65,"startDateStruct":66,"completionDateStruct":68,"leadSponsor":70,"locationsCount":45},"100461229","phase-3-promoting-utilization-and-safety-of-hydroxyurea-using-precision-in-africa-100461229","NCT05285917","Promoting Utilization and Safety of Hydroxyurea Using Precision in Africa","BrUOG 419 - Promoting Utilization and Safety of Hydroxyurea Using Precision in Africa (PUSHUP)","PUSHUP","Inclusion Criteria:\n\n* Diagnosis of sickle cell anemia (HbSS or HbS\u002FB0-thalassemia)\n* Age 6 months- 12 years of age at enrollment\n* Parent or guardian willing and able to provide written or informed consent\n* Weight ≥ 7.5 kg (temporary exclusion)\n\nExclusion Criteria:\n\n* Splenomegaly with evidence of hypersplenism as defined by platelet count \\\u003C150,000, hemoglobin \\\u003C5 g\u002FdL or absolute neutrophil count \\\u003C1.0 x10\\^9\u002FL\n* Hydroxyurea use within the past 6 months\n* Blood transfusion within the past 6 months (temporary exclusion)\n* Pregnancy\n* Pre-existing severe hematologic toxicity, as defined by platelet count \\\u003C80,000, hemoglobin \\\u003C4 regardless of ANC; hemoglobin \\\u003C6 AND ARC \\\u003C100; hemoglobin \\\u003C7 AND ARC \\\u003C80 x10\\^9\u002FL (temporary exclusion)","6 Months","12 Years",{"count":57,"type":22},400,"INTERVENTIONAL",[60],"PHASE3","Sickle cell anemia (SCA) is among the world's most common and devastating blood disorders, affecting more than 300,000 newborns per year. Most infants with SCA are born in the low-resource settings of sub- Saharan Africa, where an estimated 50-90% will die before 5 years of age due to lack of early diagnosis and appropriate care. Hydroxyurea is a safe and effective once-daily oral medication that has become the standard of care for the treatment of children with SCA in high-resource settings. There is now a growing body of evidence to support the safety and clinical benefits of hydroxyurea for the treatment of SCA in sub-Saharan Africa. The requirement for frequent laboratory monitoring, uncertainties about appropriate, most effective dosing, and the concern for hematologic laboratory toxicities, however, will continue to limit widespread hydroxyurea utilization and real-world effectiveness. The investigators have recently developed and prospectively evaluated an individualized, pharmacokinetics-guided hydroxyurea dosing strategy for children with SCA that has demonstrated optimal clinical and laboratory benefits with minimal toxicity. In this research study, the investigators aim to extend this precision medicine approach to Africa.",[63,27],"Sickle Cell Anemia in Children","2026-08-19",{"date":34,"type":37},{"date":67,"type":37},"2023-11-15",{"date":69,"type":22},"2027-09-01",{"name":71,"class":72},"Brown University","OTHER",{"id":74,"slug":75,"hasResults":12,"nctId":76,"briefTitle":77,"officialTitle":78,"acronym":79,"eligibilityCriteria":80,"healthyVolunteers":12,"sex":17,"minAge":55,"maxAge":81,"enrollmentInfo":82,"targetDuration":4,"studyType":58,"phases":84,"briefSummary":85,"conditions":86,"keywords":87,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":101,"lastUpdatePostDateStruct":102,"startDateStruct":103,"completionDateStruct":105,"leadSponsor":107,"locationsCount":110},"100549825","phase-3-a-study-to-investigate-the-efficacy-and-safety-of-crizanlizumab-5-mgkg-compared-with-placebo-in-adolescent-and-adult-sickle-cell-disease-patients-who-experience-frequent-vaso-occlusive-crises-sparkle-100549825","NCT06439082","A Study to Investigate the Efficacy and Safety of Crizanlizumab (5 mg\u002Fkg) Compared With Placebo in Adolescent and Adult Sickle Cell Disease Patients Who Experience Frequent Vaso-Occlusive Crises (SPARKLE)","A Phase III, Multicenter, Randomized, Placebo Controlled, Double-blind Study to Assess Efficacy and Safety of Crizanlizumab (5 mg\u002Fkg) Versus Placebo, With or Without Hydroxyurea\u002FHydroxycarbamide Therapy, in Adolescent and Adult Sickle Cell Disease Patients With Frequent Vaso-Occlusive Crises","SPARKLE","Key Inclusion Criteria:\n\n1. Participants must be aged 12 years and older on the day of signing informed consent. Adolescents include participants aged 12 to \\\u003C18 years old and adults include participants aged 18 years and older.\n2. Confirmed diagnosis of SCD by Hb electrophoresis or high-performance liquid chromatography (HPLC) (performed locally or by central laboratory if not available locally). All SCD genotypes are eligible.\n3. Experienced 4 to 12 VOCs (refer to Section 8.3.1 for study definition of VOC) that are HCP-managed (including VOCs leading to management at a health care facility or those managed via remote consultation) within the 12 months prior to the screening visit. Baseline VOCs are determined by medical history and are required to be documented at source.\n4. If the participant is on HU\u002FHC, they must be taking it for at least 6 months and at stable dose for at least 3 months prior to the Screening visit and plan to continue taking it at the same dose and schedule until at least the participant has reached 52 weeks of the planned study treatment. Participants who have initiated HU\u002FHC 6-12 months prior to the screening visit must have evidence of insufficient control of acute pain despite initiation. These participants must have a cumulative of 4-12 VOCs in the 12 months prior to the screening period, with at least 2 during the last 6 months while on HU\u002FHC. If receiving erythropoietin stimulating agent, the participant must have been receiving the drug for at least 6 months prior to screening visit and plan to continue taking the drug at the same dose and schedule until the participant has reached 52 weeks of the planned study treatment.\n\nParticipants who have not been receiving HU\u002FHC, and\u002For erythropoietin stimulating agent must not have received it for at least 6 months prior to screening visit.\n\nKey Exclusion Criteria:\n\n1. Fewer than 4 or more than 12 VOCs that are HCP-managed (including VOCs leading to management at a health care facility or those managed via remote consultation) within the 12 months prior to screening visit as determined by medical history and documented at source.\n2. History of stem cell transplant and\u002For gene therapy.\n3. Received blood products within 30 days prior to Week 1 Day 1 dosing.\n4. Any documented history of a clinical stroke or intracranial hemorrhage, or an uninvestigated neurologic finding within the past 12 months before screening visit. Silent infarct only present on imaging is not excluded.\n5. Participating in a chronic transfusion program (pre-planned series of transfusions for prophylactic purposes) and\u002For planning to undergo an exchange transfusion during the duration of the study; episodic transfusion in response to worsened anemia or VOC is permitted.\n6. Contraindication or hypersensitivity to any drug or metabolites from similar class as study drug or to any excipients of the study drug formulation. History of severe hypersensitivity reaction to other monoclonal antibodies, which in the opinion of the investigator may pose an increased risk of serious infusion reaction.","100 Years",{"count":83,"type":22},354,[60],"A phase III, multi-center, randomized, placebo-controlled, double-blind study to assess efficacy and safety of crizanlizumab (5 mg\u002Fkg) versus placebo, with or without hydroxyurea\u002Fhydroxycarbamide therapy, in adolescent and adult Sickle Cell Disease patients with frequent vaso-occlusive crises.",[27],[27,88,89,90,91,92,93,94,95,96,97,98,99,100],"SCD","SEG101","Crizanlizumab","Hydroxyurea\u002F Hydroxycarbamide Therapy","Vaso-Occlusive Crises","Sickle Cell Anemia","blood disorders","hemoglobin","red blood cells","sickle-like shape","mutation in hemoglobin gene","sickle-cell trait","sickle-cell crisis","2026-08-18",{"date":64,"type":37},{"date":104,"type":37},"2024-10-24",{"date":106,"type":22},"2030-07-29",{"name":108,"class":109},"Novartis Pharmaceuticals","INDUSTRY",34,{"id":112,"slug":113,"hasResults":12,"nctId":114,"briefTitle":115,"officialTitle":115,"acronym":116,"eligibilityCriteria":117,"healthyVolunteers":16,"sex":17,"minAge":118,"maxAge":19,"enrollmentInfo":119,"targetDuration":4,"studyType":58,"phases":121,"briefSummary":123,"conditions":124,"keywords":126,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":130,"lastUpdatePostDateStruct":131,"startDateStruct":132,"completionDateStruct":134,"leadSponsor":136,"locationsCount":45},"100652761","cerebrovascular-reactivity-measurements-with-high-density-diffuse-optical-tomography-100652761","NCT07776444","Cerebrovascular Reactivity Measurements With High-Density Diffuse Optical Tomography","HDDOT CVR","Inclusion Criteria:\n\n* 6-70 Years Old\n* Able to participate in MRI scan without sedation\n* May or may not have HbSS or beta thalassemia null genotypes of sickle cell anemia\n\nExclusion Criteria:\n\n* Significant craniofacial malformation or technical contraindications to DOT monitoring (for HDDOT imaging)\n* Metal in\u002Fon the body that is contraindicated for MRI safety (for MRI imaging)","6 Years",{"count":120,"type":22},120,[122],"NA","The purpose of the study protocol is to identify imaging biomarkers for brain tissue under high metabolic stress at risk for permanent injury. We will measure oxygen extraction fraction (OEF) and cerebrovascular reactivity (CVR) in participants with and without perturbations in cerebral oxygen delivery over time to determine each parameter's role in clinical and radiologic neurologic outcomes. Measuring OEF can be done with specialized MRI sequences. Measuring CVR requires a vasoactive response, such as carbon dioxide. In order to deliver carbon dioxide evenly and as safely as possible, we will use RespirACT, an MRI-compatible device, to prevent over-breathing carbon dioxide and allow rapid steady-state physiology to minimize total scan time. We will also use a high density diffuse optical tomography (HD-DOT) cap to assess the measurement of OEF and CVR. This study will investigate both regional OEF and CVR simultaneously to understand each marker's unique developmental trajectory and contribution to stroke risk in children. This work will expand insights into mechanisms of stroke in children and assess the feasibility of the HD-DOT cap for obtaining these insights by comparing a cohort of optical CVR and a cohort of MRI CVR.\n\nIn addition to the MRI and\u002For HD-DOT cap with RespirAct, participants may also have their vitals measured, complete cognitive testing, and complete a blood draw with a study visit. Participants may be followed for up to three years and may complete both an MRI scan and an HD-DOT scan within 1 week-12 months of each other. Participants may be invited back to repeat MRI and\u002For HD-DOT scans 1-2 times over the next three years.",[27,125],"Cerebral Stroke",[127,128,129],"cerebrovascular reactivity","magnetic resonance imaging","High density diffuse optical tomography","2026-08-17",{"date":34,"type":37},{"date":133,"type":37},"2025-10-01",{"date":135,"type":22},"2032-09-30",{"name":137,"class":72},"Washington University School of Medicine",{"id":139,"slug":140,"hasResults":12,"nctId":141,"briefTitle":142,"officialTitle":142,"acronym":4,"eligibilityCriteria":143,"healthyVolunteers":12,"sex":17,"minAge":144,"maxAge":18,"enrollmentInfo":145,"targetDuration":4,"studyType":58,"phases":146,"briefSummary":147,"conditions":148,"keywords":149,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":130,"lastUpdatePostDateStruct":153,"startDateStruct":154,"completionDateStruct":155,"leadSponsor":157,"locationsCount":45},"100636189","assessing-molecular-mechanisms-and-effects-of-music-therapy-in-youth-with-sickle-cell-disease-using-single-cell-rna-sequencing-100636189","NCT07562451","Assessing Molecular Mechanisms and Effects of Music Therapy in Youth With Sickle Cell Disease Using Single-cell RNA-sequencing","Inclusion Criteria:\n\n* Diagnosed with SCD\n* English fluency (for survey completion)\n* Have access to a personal electronic device (e.g., phone, tablet) with access to the internet\n* Meet the criteria for chronic pain defined by the International Association for the Study of Pain (IASP). IASP defines chronic pain as pain that is both:\n\n  1. Persistent or recurrent for ≥ 3 months\n  2. is associated with significant emotional distress or functional disability.30\n\nExclusion Criteria:\n\n* Major hearing deficiency or medical condition in which listening to music may be contraindicated (e.g., reflex epilepsy).","8 Years",{"count":7,"type":22},[122],"The goal of this clinical trial is to evaluate whether a 4-week music therapy (MT) intervention can reduce chronic pain and improve psychosocial outcomes in youth with sickle cell disease (SCD).\n\nThe main questions it aims to answer are:\n\n* Does MT reduce pain intensity, frequency of pain episodes, and improve health-related quality of life (HRQoL)?\n* Does MT alter immune cell composition and gene expression in inflammatory pathways, as measured by single-cell RNA sequencing (scRNA-seq)?\n\nResearchers will compare participants randomized to music therapy versus a control condition to see if MT produces superior improvements in pain and psychosocial outcomes, and distinct molecular changes.",[27],[150,151,152],"Music therapy","Pain control","Sickle cell disease",{"date":64,"type":37},{"date":34,"type":22},{"date":156,"type":22},"2028-04",{"name":158,"class":72},"Emory University",{"id":160,"slug":161,"hasResults":12,"nctId":162,"briefTitle":163,"officialTitle":164,"acronym":4,"eligibilityCriteria":165,"healthyVolunteers":12,"sex":17,"minAge":18,"maxAge":4,"enrollmentInfo":166,"targetDuration":4,"studyType":58,"phases":168,"briefSummary":170,"conditions":171,"keywords":4,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":130,"lastUpdatePostDateStruct":172,"startDateStruct":173,"completionDateStruct":175,"leadSponsor":177,"locationsCount":179},"100607393","phase-1-a-phase-1b-open-label-study-of-disc-3405-in-participants-with-sickle-cell-disease-scd-100607393","NCT07187973","A Phase 1b, Open-Label Study of DISC-3405 in Participants With Sickle Cell Disease (SCD)","A Phase 1b Study of the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of DISC-3405 in Participants With Sickle Cell Disease","Inclusion Criteria:\n\n1. Aged 18 years or older at the time of signing the informed consent form (ICF).\n2. Male or female study participants with SCD HbSC or HbSS.\n3. Participants who have been diagnosed with any of the following SCD-related complications: between 1-10 episodes of VOC in the past 12 months, any history of sickle cell related retinopathy, silent cerebral infarct, avascular necrosis, sensorineural hearing loss; or at least 1 episode of priapism, hepatic sequestration, splenic sequestration, or splenic infarct within the last 12 months as assessed locally.\n4. Hgb ≥7.0 g\u002FdL during Screening. The first 2 participants must have an Hgb ≥9 g\u002FdL.\n5. Normal alpha globin gene screen.\n6. Absolute reticulocyte count or % reticulocyte count \\>1.5 × upper limit of normal (ULN) during Screening.\n7. TSAT ≥15% at Screening.\n8. Ferritin ≥50 ng\u002FmL for HbSC or ≥100 ng\u002FmL for HbSS (ferritin must be \\\u003C1000 ng\u002FmL at Screening).\n9. For participants taking hydroxyurea, L-glutamine, or crizanlizumab, stable dose for at least 2 months prior to Screening and with no anticipated need for dose adjustments during the study.\n10. If male, not vasectomized for at least 6 months, with female sexual partner(s) of childbearing potential, agrees he and partner will use double methods of the following highly effective methods of birth control (described below) from the first dose of randomized study drug until 120 days after the last administration of study drug and must not donate sperm during their study participation:\n\n    1. Stable hormonal contraceptive (≥3 months; female partner) in conjunction with a barrier method (eg, condom \\[male or female\\] or diaphragm).\n    2. Intrauterine device, in place for at least 3 months (female partner) in conjunction with a barrier method (eg, condom \\[male or female\\] or diaphragm).\n    3. Surgically sterile by hysterectomy, bilateral oophorectomy, or bilateral tubal ligation (female partner) in conjunction with a barrier method (eg, condom \\[male or female\\] or diaphragm).\n11. If female, then EITHER postmenopausal, defined as at least 12 months natural, spontaneous amenorrhea, 6 months of spontaneous amenorrhea with serum follicle-stimulating hormone (FSH) \\>40 mIU\u002FmL at Screening, or at least 6 weeks following surgical menopause (bilateral oophorectomy with or without hysterectomy); surgically sterile, OR agree to use 1 of the following highly effective methods of birth control on Day 1 (or earlier) and for at least 120 days after the last administration of study drug:\n\n    1. Stable hormonal contraceptive (≥3 months) in conjunction with a barrier method (eg, condom \\[male or female\\] or diaphragm).\n    2. Intrauterine device, in place for at least 3 months in conjunction with a barrier method (eg, condom \\[male or female\\] or diaphragm).\n    3. Tubal ligation or single male partner with vasectomy in conjunction with a barrier method (eg, condom \\[male or female\\] or diaphragm).\n12. Negative pregnancy test (females of childbearing potential) prior to dosing.\n13. Able to understand the study aims, procedures, and requirements, and provide written informed consent.\n14. Able to comply with all study procedures.\n\nExclusion Criteria:\n\n1. Participants who are receiving regularly scheduled blood (RBC) transfusion therapy or phlebotomy or have received RBC transfusion or phlebotomy within 60 days of Screening.\n2. Hospitalized for VOC or other sickle cell related complication within 14 days of Screening.\n3. Participants with clinically significant bacterial, fungal, parasitic, or viral infection.\n4. Active HIV, hepatitis B, or C. A positive hepatitis or HIV result should be discussed between the Investigator and Sponsor prior to enrollment.\n5. Significant renal dysfunction, evidenced by estimated glomerular filtration rate of \\\u003C60 mL\u002Fmin\u002F1.73 m2 at the Screening visit, as assessed locally.\n6. Hepatic dysfunction characterized by alanine aminotransferase (ALT) \\>2.5 × ULN.\n7. Any episode of ACS in the last 6 months.\n8. Prior or planned hematopoietic stem cell transplant or gene therapy.\n9. History of unstable or deteriorating cardiac or pulmonary disease within 6 months prior to Screening.\n10. History of invasive malignancies within the last 5 years, except localized cured prostate cancer and cervical cancer, or other malignancies deemed acceptable by the Sponsor.\n11. Major surgery within 8 weeks before Screening or incomplete recovery from any previous surgery.\n12. A history or known allergic reaction to any IP excipients or history of anaphylaxis to any food or drug.\n13. History of alcohol dependence or excessive alcohol consumption, as assessed by the Investigator.\n14. Other medical or psychiatric condition or laboratory finding not specifically noted above that, in the judgment of the Investigator or Sponsor, would put the participant at an unacceptable risk or otherwise preclude the participant from participating in the study.\n15. Condition or concomitant medication that would confound the ability to interpret clinical, clinical laboratory, including a major psychiatric condition that has had an exacerbation or required hospitalization in the last 6 months.\n16. If female, pregnant or breastfeeding.\n17. Participation in any other clinical protocol or investigational study that involves administration of experimental therapy and\u002For therapeutic devices within 30 days of Screening.\n18. Participants with a history of transient ischemic attack or stroke may be considered in consultation with Sponsor.",{"count":167,"type":22},24,[169],"PHASE1","This is an open-label, multicenter, within-participant dose-escalation study examining up to 3 dose levels of DISC-3405 and will assess the safety, tolerability, PK, and PD of DISC 3405 in participants with sickle cell disease.",[27],{"date":64,"type":37},{"date":174,"type":37},"2026-01-06",{"date":176,"type":22},"2027-10",{"name":178,"class":109},"Disc Medicine, Inc",8,{"id":181,"slug":182,"hasResults":12,"nctId":183,"briefTitle":184,"officialTitle":185,"acronym":4,"eligibilityCriteria":186,"healthyVolunteers":16,"sex":17,"minAge":18,"maxAge":81,"enrollmentInfo":187,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":189,"conditions":190,"keywords":192,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":196,"lastUpdatePostDateStruct":197,"startDateStruct":198,"completionDateStruct":4,"leadSponsor":200,"locationsCount":45},"100098389","blood-sampling-for-research-related-to-sickle-cell-disease-100098389","NCT00542230","Blood Sampling for Research Related to Sickle Cell Disease","High Sensitivity Screening of Compound Libraries to Discover a Drug for the Treatment of Sickle Cell Disease","* INCLUSION CRITERIA:\n* Patients with sickle cell trait\n* Patients with known hemoglobinopathies involving one or two genes for sickle hemoglobin\n* Healthy volunteers for control experiments\n* Age range: adults greater than or equal to 18 years of age\n\nEXCLUSION CRITERIA:\n\n* Subjects who are unable to comprehend the investigational nature of the laboratory research are ineligible to enroll in this protocol.\n* As a safety precaution in handling the blood samples, patients with HIV, Hepatitis B or Hepatitis C will be excluded from the study. HIV, Hepatitis B or Hepatitits C testing will not be done under this study. Participants must be co-enrolled under another NIH protocol where the screening evaluation has been performed.",{"count":188,"type":22},250,"This study will collect representative blood samples from healthy children and adults and from children and adults who have unique red blood cell features that are related to sickle cell disease. Sickle cell disease is a blood disease that limits the ability of red blood cells to carry oxygen throughout the body. The purpose of the study is to collect a variety of blood samples that may then be used to investigate advances and potential new drug treatments for sickle cell disease.\n\nVolunteers must be at least 18 years of old. Samples will be taken both from healthy volunteers and from volunteers who have unique red blood cell features that are related to sickle cell disease. Candidates will be screened with a medical history.\n\nDuring the study, participants will undergo a one- to two-hour outpatient procedure at the National Institutes of Health Clinical Center. Once researchers have explained the study and obtained the participant s consent, participants will donate 8 cc (approximately 2 teaspoons) of blood.\n\nBecause repeat testing helps researchers validate study findings, participants who have the unique red blood cell features mentioned above may also be asked if they are willing to return and donate another 2 cc to 8 cc of blood for additional studies. The amount of blood drawn will not exceed 50 ml with any eight-week period for adults or 7 cc within any six-week period for children....",[191,27,93],"Sickle Cell Trait",[193,194,191,195,27,32],"Erythrocytes","Drug Screen","Sickle Hemoglobin","2026-08-15",{"date":101,"type":37},{"date":199,"type":37},"2007-11-07",{"name":201,"class":44},"National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)",{"id":203,"slug":204,"hasResults":12,"nctId":205,"briefTitle":206,"officialTitle":207,"acronym":4,"eligibilityCriteria":208,"healthyVolunteers":12,"sex":17,"minAge":55,"maxAge":4,"enrollmentInfo":209,"targetDuration":4,"studyType":58,"phases":211,"briefSummary":213,"conditions":214,"keywords":4,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":215,"lastUpdatePostDateStruct":216,"startDateStruct":217,"completionDateStruct":219,"leadSponsor":221,"locationsCount":223},"100472377","phase-2-a-phase-23-study-in-adult-and-adolescent-participants-with-scd-100472377","NCT05431088","A Phase 2\u002F3 Study of Osivelotor in Adult and Adolescent Participants With SCD","A PHASE 2\u002F3 RANDOMIZED, MULTICENTER STUDY OF OSIVELOTOR ADMINISTERED ORALLY TO ADULT AND ADOLESCENT PARTICIPANTS WITH SICKLE CELL DISEASE","Inclusion Criteria:\n\nPart A and Part B:\n\n* Male or female with SCD, HbSS and HbSB-zero\n* Participants with Hemoglobin ≥ 5.5 and ≤ 10.5 g\u002FdL during Screening and considered stable by the Investigator.\n* For participants taking hydroxyurea and\u002For L-glutamine, the dose must be stable for at least 90 days prior to signing the ICF or assent and with no anticipated need for dose adjustments during the study in the opinion of the Investigator.\n\nPart B:\n\n* Participants with SCD ages 12 years and older, inclusive at screening.\n* Participants with more than or equal to 2 and ≤ 10 VOCs within 12 months of Screening.\n\nOLE:\n\n\\- Participants who have completed the Part B successfully will be eligible.\n\nExclusion Criteria:\n\nPart A and Part B:\n\n* Participants who had more than 10 VOC within 12 months of screening\n* Female participant who is breastfeeding or pregnant\n* Participants who receive RBC transfusion therapy regularly or received an RBC transfusion ---for any reason within 90 days of Day 1\n* Participants hospitalized for sickle cell crisis or other vaso-occlusive event within 14 days of signing the ICF or anytime during the screening period.\n* Participants in Sub-Saharan Africa or who have relocated from Sub-Saharan Africa within 6 months.\n\nOLE:\n\n* Have any unresolved clinically significant adverse event, laboratory abnormality, or safety finding from Part B that, in the opinion of the Investigator, increases the risk of study drug administration.\n* Met permanent treatment discontinuation criteria during Part B.\n* Have withdrawn consent or are unable to comply with study procedure",{"count":210,"type":22},389,[212,60],"PHASE2","The purpose of this study is to evaluate the safety, tolerability, efficacy, pharmacokinetics and pharmacodynamics of osivelotor.",[27],"2026-08-14",{"date":101,"type":37},{"date":218,"type":37},"2022-09-22",{"date":220,"type":22},"2032-12-31",{"name":222,"class":109},"Pfizer",80,{"id":225,"slug":226,"hasResults":12,"nctId":227,"briefTitle":228,"officialTitle":229,"acronym":4,"eligibilityCriteria":230,"healthyVolunteers":12,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":231,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":233,"conditions":234,"keywords":4,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":215,"lastUpdatePostDateStruct":247,"startDateStruct":248,"completionDateStruct":250,"leadSponsor":252,"locationsCount":255},"100393100","athn-transcends-a-natural-history-study-of-non-neoplastic-hematologic-disorders-100393100","NCT04398628","ATHN Transcends: A Natural History Study of Non-Neoplastic Hematologic Disorders","ATHN Transcends: A Natural History Cohort Study of the Safety, Effectiveness, and Practice of Treatment in People With Non-Neoplastic Hematologic Disorders","Participants who meet the following inclusion criteria and none of the exclusion criteria are eligible for enrollment in one of the open disease-specific arms.\n\nInclusion Criteria:\n\n1. Any age\n2. Having a congenital or acquired blood disorder; or\n3. Having a bleeding phenotype as indicated by an age adjusted abnormal ISTH Bleeding Assessment Tool score with an unknown diagnosis; or\n4. Connective tissue disorder with bleeding tendency as indicated by an age adjusted abnormal ISTH Bleeding Assessment Tool score.\n5. Eligible for a currently active disease-specific arm.\n6. Concurrent enrollment in the ATHNdataset or current ATHNdataset participant.\n\nExclusion Criteria:\n\n1\\. Does not qualify for inclusion in a currently activedisease-specific arm; participants may be eligible to enroll as future cohorts and arms are activated; 2. Unable to give informed consent or assent 3. Unwilling to perform study procedures\n\nCohort Participant Selection\n\nEach participant is to be enrolled in the cohort for which they qualify as defined below.\n\nHemophilia Cohort\n\nInclusion Criteria:\n\nParticipants who meet any of the following inclusion criteria are eligible for enrollment into this cohort:\n\n1. Factor VIII or factor IX activity \\\u003C50%, without another explanation for low clotting factor other than congenital hemophilia or being a known carrier for congenital hemophilia; OR\n2. Carrier for congenital hemophilia with a factor VIII \\>=50% or factor IX activity \\>=50% with or without a bleeding phenotype as indicated by an ISTH Bleeding Assessment Tool score of ≥4 for adult males, ≥6 for adult females, or ≥3 for children younger than 18 years OR\n3. Known congenital hemophilia that have a factor level \\>50% after receiving vector, OR 4. Acquired hemophilia.\n\nExclusion Criteria:\n\nNone\n\nVon Willebrand Disease Cohort\n\nInclusion Criteria:\n\nParticipants who meet the following inclusion criteria are eligible for enrollment into this cohort:\n\n1\\. Meeting the definition of VWD or low VWF per most recent international guidelines\n\nExclusion Criteria:\n\nNone\n\nCongenital Platelet Disorders Cohort\n\nInclusion Criteria:\n\nParticipants who meet the following inclusion criteria are eligible for enrollment into this cohort:\n\n1. Abnormalities of platelet function a. Glanzmann thrombasthenia (GPIIb or GPIIIa) b. Bernard-Soulier syndrome (GPIbalpha, GPIbbeta, or GPIX)\n2. Abnormalities of platelet granules\n3. Abnormalities of platelet signal transduction\n4. Abnormalities of platelet secretion\n5. Collagen Receptor Defect\n6. ADP Receptor Defect\n7. Thromboxane Receptor Defect\n8. Giant Platelet Disorder\n9. Abnormalities in platelet aggregation testing due to another or unknown cause (not drug related)\n\nExclusion Criteria:\n\n1\\. Platelet disorders secondary to medications or other substances\n\nRare Disorders Cohort\n\nInclusion Criteria:\n\nParticipants who meet the following inclusion criteria are eligible for enrollment into this cohort:\n\n1\\. Have an established Rare Coagulation Disorder (RCD) diagnosis of one of the following:\n\n1. PAI-1 deficiency\n2. Factor I, II, V, VII, X, XI, XIII deficiencies\n3. Combined FV and FVIII deficiency\n4. Plasminogen deficiency\n5. Decreased tissue plasminogen activator\n6. Afibrinogenemia\u002Fhypofibrinogenemia\u002Fdysfibrinogenemia\n7. Thrombotic Thrombocytopenia Purpura or Congenital Hemolytic Uremic Syndrome\n8. Wiskott-Aldrich\n9. Methylenetetrahydrofolate Reductase Deficiency\n\nExclusion Criteria:\n\nNone\n\nBleeding NOS Cohort\n\nInclusion Criteria:\n\nParticipants who meet the following inclusion criteria are eligible for enrollment into this cohort:\n\n1. Have a bleeding phenotype as indicated by an ISTH Bleeding Assessment Tool score of ≥4 for adult males, ≥6 for adult females, or ≥3 for children younger than 18 years with an unknown diagnosis, OR\n2. Connective tissue disorder with bleeding tendency as indicated by an ISTH Bleeding Assessment Tool score of ≥4 for adult males, ≥6 for adult females, or ≥3 for children younger than 18 years.\n\nExclusion Criteria:\n\nNone\n\nThrombosis\u002FThrombophilia Cohort\n\nInclusion Criteria\n\nParticipants who meet the following inclusion criteria are eligible for enrollment into this cohort:\n\n1\\. Have a prior history of arterial or venous thrombosis. 2. Participants with a known congenital or acquired thrombophilia with or without thrombosis.\n\na. Common congenital thrombophilias: i. Protein C deficiency ii. Protein S deficiency iii. Antithrombin deficiency iv. Factor V Leiden v. Prothrombin gene mutation b. Rare genetic factors i. Hyperhomocysteinemia c. Indeterminate genetic factors i. Elevated factor VIII ii. Elevated factor IX iii. Elevated factor XI iv. Elevated lipoprotein (a) d. Acquired thrombophilias i. Lupus anticoagulant ii. Anti-cardiolipin antibodies\u002FBeta2 glycoprotein antibodies iii. Antiphospholipid syndrome\n\nExclusion Criteria Acquired thrombophilia secondary to medications (birth control pills or hormone replacement therapy), overweight or obesity, smoking, cancer, pregnancy, surgery, injury, prolonged inactivity\u002Fbedrest, heart failure, inflammatory bowel disease, or kidney disease\n\nNon-Neoplastic Hematologic Conditions Cohort\n\nInclusion Criteria\n\nParticipants who meet the following inclusion criteria are eligible for enrollment into this cohort:\n\n1\\. Having any congenital or acquired non-neoplastic hematologic disorder not included in any other cohort\n\nExclusion Criteria None\n\nArm\u002FModule Participant Selection\n\nPreviously Untreated Patients Arm\n\nInclusion Criteria:\n\n1. Diagnosis of congenital hemophilia A (FVIII \\\u003C40%) or hemophilia B (FIX \\\u003C40% or below lower limit for age)\n2. Age \\\u003C18 years at time of enrollment\n3. Parent or authorized guardian or legally authorized representative (LAR) can provide informed consent\n4. Care established at one of the ATHN Transcends participating HTCs\n5. Clotting Factor Concentrate (CFC) exposure, fresh frozen plasma (FFP), cryoprecipitate, and single donor platelets \\\u003C3 exposure days (ED)\n\nExclusion Criteria\n\n1. Concomitant diagnosis with another bleeding disorder\n2. History of a confirmed, positive inhibitor\n\nINHIBIT Module\n\nInclusion Criteria:\n\n1\\. Diagnosis of severe factor VIII deficiency with baseline factor VIII level \\\u003C1% 2. Initiating or plan to initiate prophylaxis with emicizumab or factor replacement 3. Factor concentrate exposure, Fresh Frozen Plasma (FFP), cryoprecipitate, and single donor platelets ≤3 EDs 4. ≤5 years of age\n\nExclusion Criteria\n\n1. Concomitant diagnosis with bleeding disorder other than hemophilia A\n2. Immune disorder\n3. Previous history or presence of factor VIII inhibitor. A confirmed, positive inhibitor is defined as two consecutive positive inhibitor titers (≥ 0.6 BU) that result in changes in treatment recommendations.\n\nEfanesoctocog alfa (ALTUVIIIO®) Module\n\nInclusion criteria:\n\n1. Ability of the potential participant's legally authorized representative (e.g., their parent or legal guardian) to understand the purpose and risks of the study and provide signed and dated informed consent and authorization to use confidential health information in accordance with national and local participant privacy regulation.\n2. People with severe HA with a baseline FVIII activity of less than 1%. (While inclusion for participation in ATHN Transcends lists \\\u003C5% FVIII activity, this proposed module will limit enrollment to people with FVIII activity levels of \\\u003C1%.) Other severities may be included per ATHN Transcends PI approval.\n3. \\\u003C18 years of age.\n4. No history of a confirmed, positive FVIII inhibitor.\n5. Sex assigned at birth of male, female, or intersex.\n6. Participants should have no more than three (3) exposure days of blood products (fresh frozen plasma, cryoprecipitate, or platelets), no more than three (3) doses of any FVIII concentrate other than efanesoctocog alfa, and up to three (3) doses of efanesoctocog alfa prior to enrollment.\n7. Site PI confirmed all inclusion criteria has been met.\n\nExclusion criteria:\n\n1. Not meeting all the inclusion criteria; confirmed by site PI.\n2. Any exposure to blood products or FVIII replacement products except as described in the inclusion criteria.\n3. History of positive inhibitor testing.\n4. History of hypersensitivity reactions associated with efanesoctocog alfa administration.\n5. Other coagulation disorder(s) in addition to Hemophilia A.\n6. Any concurrent clinically significant major disease such as cancer that, in the opinion of the investigator, would make the participant unsuitable for enrollment.\n7. Concurrent systemic treatment with chemotherapy and\u002For other immunosuppressant medications. Use of corticosteroids for the treatment of asthma or management of acute allergic or otherwise life-threatening episodes is allowed except for systemic corticosteroid treatment given to children daily or on an alternate day schedule at \\> 2 mg\u002Fkg\u002Fday of prednisone or its equivalent or \\> 20 mg\u002Fday if the duration is longer than 14 days.\n8. Enrollment in a concurrent clinical interventional drug study.\n9. Intake of an Investigational Medicinal Product within three (3) months prior to inclusion in this study.\n10. Inability to comply with study requirements.\n11. Other, unspecified reasons that, in the investigator's opinion, make the participant unsuitable for enrollment.\n\nHemophilia Natural History Arm\n\nInclusion Criteria\n\n1. Congenital or acquired hemophilia A or B of any severity with or without inhibitors receiving a current therapy, a non-factor product, or for whom use of a non-factor product is a possibility, OR\n2. Females of any age, with confirmed congenital hemophilia A or B carrier status with genetic mutational analysis and any factor level.\n\nExclusion Criteria\n\n1. Presence of any known bleeding disorder other than congenital hemophilia A or B\n2. Presence of concurrent hemophilia and a second hemostatic defect (low von Willebrand Factor (vWF) without vWD diagnosis is not excluded)\n3. Unable or unwilling to comply with the study arm protocol.\n\nNonacog beta pegol (Rebinyn®) Module\n\nInclusion Criteria:\n\n1. Has provided signed written consent for the nonacog beta pegol (Rebinyn®)Module before any study-related activities.\n2. Male participants, at any age with hemophilia B, naïve or minimally exposed (up to 3 EDs) to nonacog beta pegol treatment at time of study enrollment. Additional doses may be allowable per ATHN Transcends PI approval.\n3. Decision to initiate continuous prophylaxis treatment with commercially available nonacog beta pegol has been made by the participant(s)\u002FLegally Authorized Representative(s) (LAR(s)) and the treating physician before and independently from the decision to include the participant in this study.\n\nExclusion Criteria:\n\n1. Previous participation in this study. Participation is defined as having given informed consent in this study.\n2. Mental incapacity, unwillingness or language barriers precluding adequate understanding or cooperation, including a diagnosis or suspicion of attention deficit hyperactivity disorder (ADHD) or autism spectrum disorder (ASD) per the discretion of the Principal Investigator.\n3. Known or suspected hypersensitivity to nonacog beta pegol or related products.\n4. Clinical suspicion or presence of FIX inhibitor at time of inclusion.\n5. Inability or unwillingness to undergo neurological assessment\u002Fstructured developmental history.\n\nEmicizumab (Hemlibra®) Module\n\nInclusion Criteria:\n\n1. Participant currently treated with emicizumab (Hemlibra®)\n2. Currently enrolled in the Hemophilia Natural History Arm of ATHN Transcends\n\nExclusion Criteria:\n\n1\\. Unable or unwilling to comply with the protocol\n\nDistress Module\n\nInclusion Criteria:\n\n1. Congenital hemophilia A or B of any severity with or without inhibitors receiving a current therapy, a non-factor product, or for whom use of a non-factor product is a possibility\n2. Age 18 years of age or older\n3. English speaking\n\nExclusion Criteria:\n\n1. Presence of any known bleeding disorder other than congenital hemophilia A or B;\n2. Presence of concurrent hemophilia and a second hemostatic defect (low von Willebrand Factor (vWF) without vWD diagnosis is not excluded); and\n3. Unable or unwilling to comply with the study arm protocol\n\nHemophilia Gene Therapy Outcomes Arm\n\nInclusion Criteria\n\n1. Hemophilia A or B of any severity with or without inhibitors having received or will receive a hemophilia gene transfer product in the next 6 months.\n2. Age 18 years and older.\n3. Able to give informed consent.\n\nExclusion Criteria None\n\nEtranacogene dezaparvovec (HEMGENIX®) Module\n\nInclusion Criteria:\n\nEtranacogene dezaparvovec (HEMGENIX®) Cohort\n\n1. Age 18 years of age or older\n2. Treatment with commercial etranacogene dezaparvovec (HEMGENIX®)\n3. Have provided signed written informed consent within 3 months before or within 6 months after etranacogene dezaparvovec (HEMGENIX®) treatment, or within 6 months of when the study is initiated at the treating site.\n\nFIX Prophylaxis Cohort\n\n1. Age 18 years of age or older\n2. Treatment with FIX prophylaxis therapy\n3. Has provided signed written consent at any time for ATHN Transcends Study\n\nExclusion Criteria, both cohorts:\n\n1\\. Have been treated with etranacogene dezaparvovec in a clinical trial prior to commercial availability. These patients are still eligible for enrollment in the Gene Therapy Outcomes Arm, and their data may be collected for separate analysis.\n\nCongenital Platelet Disorders Arm\n\nInclusion Criteria\n\n1. Platelet adhesion defect\n\n   1. Bernard Soulier syndrome (Defective GPIb-IX-V receptor, impaired adhesion to vWF)\n   2. Velocardio-facial syndrome\u002FDiGeorge syndrome (Defective GPIb-IX-V receptor)\n   3. Platelet type vWD (Defective GPIb-IX-V, gain of function interaction between vWF-GP1bα)\n2. Platelet aggregation defect\n\n   1. Glanzmann thrombasthenia (Defective integrin αIIbβ3 (GPIIb\u002FIIIa)\n   2. Platelet aggregation defect, NOS\n3. Agonist receptor defects\n\n   1. Epinephrine\n   2. ADP\n   3. Collagen\n   4. Thromboxane A2\n4. Platelet signaling defects\n\n   1. Cyclooxygenase deficiency (PTGS1 mutation)\n   2. Phospholipase A2 deficiency\n   3. Thromboxane synthase deficiency (TBXAS1 mutation)\n   4. G protein activation defect (GNAS mutation)\n   5. Scott syndrome (defect in phosphatidyl serine translocation)\n5. Platelet Granule disorders\n\n   1. Dense granule storage pool disorder\n\n      * Hermansky Pudlak syndrome\n      * Chediak Higashi syndrome\n      * Griscelli syndrome\n   2. Alpha granule storage pool disorder\n\n      * Grey platelet syndrome\n      * Arthrogryposis-Renal Dysfunction-Cholestasis (ARC) syndrome\n      * Quebec platelet disorder\n      * Paris-Trousseau syndrome\n   3. Combined alpha delta granule deficiency\n6. Platelet cytoskeletal structure defects\n\n   1. Wiskott Aldrich syndrome\n   2. MYH9 associated disorders (myosin heavy chain)\n\n      * May Hegglin syndrome\n      * Fechtner syndrome\n      * Sebastian syndrome\n      * Epstein syndrome\n   3. Other mutations\n\n      * FLNA mutations (Filamin)\n      * DIAPH1 (Actin and microtubules)\n      * ACTN1 (alpha actinin)\n      * TPM4 (tropomyosin)\n      * TUBB1 (beta tubulin)\n7. Other Congenital thrombocytopenias\n\n   1. Familial platelet disorders and predisposition to AML (RUNX1)\n   2. X linked thrombocytopenia with dyserythropoiesis (GATA1)\n   3. Congenital amegakaryocytic thrombocytopenia (MPL)\n\nExclusion Criteria\n\n1. Diagnosis of von Willebrand Disease (Meeting the definition of vWD or low vWF per most recent international guidelines)\n2. Diagnosis of Hemophilia A or Hemophilia B (Factor VIII or IX ≤ 40%)\n\nGlanzmann Thrombasthenia (GT) Module\n\nInclusion Criteria\n\n1. Participant has signed the informed consent\u002Fassent form\n2. Participant has flow cytometry or aggregometry or genetics confirmed GT\n3. Participant is willing to perform study procedures, including daily bleed tracking for 3 months and further if requested\n4. Participants are 2 years or older at time of consent\n\nExclusion Criteria None",{"count":232,"type":22},3000,"In parallel with the growth of ATHN's clinical studies, the number of new therapies for all blood disorders is increasing significantly. Some of the recently FDA-approved therapies for congenital and acquired hematologic conditions have not yet demonstrated long-term safety and effectiveness beyond the pivotal trials that led to their approval. In addition, results from well controlled, pivotal studies often cannot be replicated once a therapy has been approved for general use.2,3,4,5\n\nIn 2019 alone, the FDA has issued approvals for 24 new therapies for congenital and acquired hematologic conditions.6 In addition, almost 10,000 new studies for hematologic diseases are currently registered on www.clinicaltrials.gov.7\n\nWith this increase in potential new therapies possible, it is imperative that clinicians and clinical researchers in the field of non-neoplastic hematology have a uniform, secure, unbiased, and enduring method to collect long-term safety and efficacy data. As emphasized in a recently published review, accurate, uniform and quality national data collection is critical in clinical research, particularly for longitudinal cohort studies covering a lifetime of biologic risk.8",[235,236,237,238,239,240,241,242,243,244,245,246,27],"Hematologic Disorder","Bleeding Disorder","Connective Tissue Disorder","Hemophilia","Thrombosis","Von Willebrand Diseases","Thrombophilia","Rare Bleeding Disorder","Platelet Disorder","Factor IX Deficiency","Factor VIII Deficiency","Thalassemia",{"date":130,"type":37},{"date":249,"type":37},"2020-09-30",{"date":251,"type":22},"2035-12",{"name":253,"class":254},"American Thrombosis and Hemostasis Network","NETWORK",76,{"id":257,"slug":258,"hasResults":12,"nctId":259,"briefTitle":260,"officialTitle":261,"acronym":262,"eligibilityCriteria":263,"healthyVolunteers":12,"sex":17,"minAge":264,"maxAge":265,"enrollmentInfo":266,"targetDuration":4,"studyType":58,"phases":268,"briefSummary":269,"conditions":270,"keywords":272,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":284,"lastUpdatePostDateStruct":285,"startDateStruct":286,"completionDateStruct":287,"leadSponsor":289,"locationsCount":291},"100614639","phase-2-efficacy-and-safety-of-sil-8301-for-control-of-hemolysis-in-a-uniform-sickle-cell-disease-endotype-100614639","NCT07282210","Efficacy and Safety of SIL-8301 for Control of Hemolysis in a Uniform Sickle Cell Disease Endotype","A Multicenter, Randomized, Double-blind, Placebo-controlled Study to Determine Efficacy and Safety of SIL-8301 in Sickle Cell Disease (SCD) Patients With a Predominantly Hemolytic Phenotype","RESCUE","Inclusion Criteria:\n\n* Documented diagnosis of sickle cell disease\n* 16-35 years of age\n* Hb ≤ 9.0 g\u002FdL\n* History of no more than 1 acute SCD-related painful crises requiring a visit to a medical facility per year within the preceding 2 years\n* History of at least one hemolytic complication\n* Current treatment with hydroxyurea\n\nExclusion Criteria:\n\n* Receipt of senicapoc in a previous investigational study\n* Current Red Blood Cell (RBC) transfusion or exchange transfusion program\n* History of pulmonary hypertension\n* Active cardiovascular, neurologic, endocrine, hepatic, or renal disorders\n* Diagnosis of cancer (except non-melanoma skin cancer in situ, cervical cancer in situ, or breast cancer in situ) within the last 5 years\n* History of liver disease","16 Years","35 Years",{"count":267,"type":22},105,[212],"SIL-8301 (senicapoc) is being developed for the chronic treatment of patients with sickle cell disease in both adults and children. The purpose of this study is to compare the effects of senicapoc to placebo in patients with sickle cell disease that have had fewer than 2 acute sickle-related painful crises per year over the preceding 2 years, and have a predominantly hemolytic phenotype, defined as presence or history of at least one hemolytic complication and a baseline Hb of 9 g\u002FdL or less, despite receiving hydroxyurea (an oral drug used for treatment of sickle cell disease) as standard of care. Participants will take senicapoc or matching placebo daily and continue on hydroxyurea as prescribed for up to 24 weeks.",[27,271,93],"Sickle Cell Anaemia",[273,274,275,276,277,278,279,280,281,282,283],"senicapoc","Anemia, Hemolytic, Congenital","Anemia, Hemolytic","Anemia","Hematologic Diseases","Hemic and Lymphatic Diseases","Hemoglobinopathies","Genetic Diseases, Inborn","Congenital, Hereditary, and Neonatal Diseases and Abnormalities","Anemia, Sickle Cell","Anaemia, Sickle Cell","2026-08-13",{"date":130,"type":37},{"date":284,"type":22},{"date":288,"type":22},"2029-02",{"name":290,"class":109},"Biossil Inc.",4,{"id":293,"slug":294,"hasResults":12,"nctId":295,"briefTitle":296,"officialTitle":297,"acronym":298,"eligibilityCriteria":299,"healthyVolunteers":12,"sex":17,"minAge":55,"maxAge":4,"enrollmentInfo":300,"targetDuration":4,"studyType":58,"phases":302,"briefSummary":303,"conditions":304,"keywords":4,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":305,"lastUpdatePostDateStruct":306,"startDateStruct":307,"completionDateStruct":309,"leadSponsor":311,"locationsCount":313},"100563138","phase-3-a-study-to-evaluate-how-well-etavopivat-works-in-people-with-sickle-cell-disease-100563138","NCT06612268","A Study to Evaluate How Well Etavopivat Works in People With Sickle Cell Disease","A Global Phase 3, Randomised, Double-blind and Placebo-controlled Study Evaluating the Efficacy and Safety of Etavopivat in Adolescents and Adults With Sickle Cell Disease","Hibiscus 2","Inclusion Criteria:\n\n* Male or female.\n* Age 12 years or above at the time of signing the informed consent.\n* Confirmed diagnosis of sickle cell disease: Documentation of sickle cell disease (SCD) genotype (HbSS, HbSβ0-thalassemia or other sickle cell syndrome variants) based on prior history of laboratory testing or screening test results from central laboratory. Molecular genotyping is not required. SCD genotype may be determined from the results of haemoglobin (Hb) electrophoresis, high-performance liquid chromatography (HPLC) or similar testing. Note that Hb electrophoresis is performed by the central laboratory at screening.\n* Have 1-15 episodes of documented vaso occlusive crises (VOC) within the 12 months prior to screening. Documentation must exist in the participant's medical record prior to randomisation. Events based solely on participant recall without supporting documentation should not be counted towards eligibility.\n* Hb greater than or equal to (≥) 5.0 and less than or equal to (≤) 10.0 g\u002FdL (greater than or equal to (≥) 50 and less than or equal to (≤) 100 g\u002FL) at screening.\n\nExclusion Criteria:\n\n* More than 15 VOCs within the past 12 months prior to screening documented in the participant's medical record. Events based solely on participant recall without supporting documentation should not be counted towards eligibility.\n* Use of voxelotor or similar agent within 28 days prior to starting study treatment or anticipated need for this agent during the study.\n* Use of a selectin antagonist (e.g., crizanlizumab, monoclonal antibody or small molecule) within 28 days or 5 half-lives (whichever is longer) prior to starting study treatment or anticipated need for such agents during the study.\n* Receiving regularly scheduled blood (RBC) transfusion therapy (also termed chronic, prophylactic, or preventive transfusion) or greater than or equal to 6 transfusion events in the previous 12 months (i.e., an average of 1 transfusion event every 60 days).\n* Participants who have received an RBC transfusion for any reason within 60 days of the screening period or 60 days of the randomisation day are only eligible if HbA (adult haemoglobin) less than 10% by Hb electrophoresis is documented prior to starting study treatment.\n* Receiving or use of concomitant medications that are strong inducers of CYP3A4 (cytochrome p450 3a4) within 2 weeks of starting study treatment or anticipated need for such agents during the study.\n* Use of erythropoietin or other haematopoietic growth factor treatment within 28 days of starting study treatment or anticipated need for such agents during the study.\n* Receipt of prior cellular-based therapy (e.g., haematopoietic cell transplant, gene modification therapy).\n* Hepatic dysfunction characterized by:\n\n  * Alanine aminotransferase (ALT) greater than 4.0 × upper limit of normal (ULN) or\n  * Direct bilirubin greater than 3.0 × ULN.\n* Participants who are not taking or are unable to take antimalarial prophylaxis at the time of consent and during the study if they live in areas of endemic malaria where prophylaxis is recommended.\n* Severe renal dysfunction (estimated glomerular filtration rate \\[eGFR\\] at screening, calculated by the central laboratory greater than 30 mL\u002Fmin\u002F1.73 m\\^ 2) or on chronic dialysis.\n* Travelled distance on standardized 6MWT below 100m at screening.",{"count":301,"type":22},408,[60],"This study is conducted to confirm whether etavopivat works well at reducing the number of Vaso-occlusive crisis VOCs (sickle cell pain crises) caused by obstructions in blood vessels in adults and adolescents living with sickle cell disease. The study will also evaluate how well etavopivat can reduce the damage to different organs, improve your exercise tolerance and reduce fatigue in people with sickle cell disease.The participants will either get etavopivat or placebo. Which treatment the participants will get is decided by chance. Etavopivat is a new medicine and is currently being tested in other studies in addition to this one. The study will last for about 2 years.",[27],"2026-08-12",{"date":284,"type":37},{"date":308,"type":37},"2025-02-17",{"date":310,"type":22},"2029-08-12",{"name":312,"class":109},"Novo Nordisk A\u002FS",175,{"id":315,"slug":316,"hasResults":12,"nctId":317,"briefTitle":318,"officialTitle":319,"acronym":320,"eligibilityCriteria":321,"healthyVolunteers":12,"sex":17,"minAge":322,"maxAge":4,"enrollmentInfo":323,"targetDuration":4,"studyType":58,"phases":325,"briefSummary":326,"conditions":327,"keywords":4,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":305,"lastUpdatePostDateStruct":328,"startDateStruct":329,"completionDateStruct":331,"leadSponsor":333,"locationsCount":334},"100562904","phase-3-a-research-study-looking-at-long-term-treatment-with-etavopivat-in-people-with-sickle-cell-disease-or-thalassaemia-100562904","NCT06609226","A Research Study Looking at Long-term Treatment With Etavopivat in People With Sickle Cell Disease or Thalassaemia","An Open-label, Multi-centre, Rollover Study to Characterise Long-term Safety and Efficacy of Etavopivat in Adults, Adolescents and Children Who Have Sickle Cell Disease or Thalassaemia and Have Completed a Treatment Period in an Etavopivat Study","FLORAL","Inclusion Criteria:\n\n* Participant must have ongoing participation in an etavopivat parent study for treatment of sickle cell disease (SCD) or thalassaemia and have completed at least a treatment period of the parent study.\n* Participant must have derived clinical benefit from treatment with etavopivat, as determined by the investigator.\n* Any participant with dose reduction or temporary discontinuation will need to be successfully rechallenged to the full dose of etavopivat before transferring.\n* Participants on hydroxyurea (HU), crizanlizumab or l-glutamine oral powder (Endari®) treatment at the time of consent may be eligible if they have been on a stable dose in the parent study as defined at the investigator's discretion. Necessary adjustments related to weight or age are accepted. Participants with temporary dose reductions or pauses due to medical reasons may still be considered to have a stable dose, as determined by the investigator, who will assess the impact of these adjustments based on clinical context and the participant's overall health status.\n\nExclusion Criteria:\n\n* Any disorder, except for conditions associated with SCD or thalassaemia, which in the investigator's opinion might jeopardise participant's safety or compliance with the protocol.\n* Participant withdrew or had permanent treatment discontinuation from an etavopivat clinical study.\n* Participants on permanent dose reduction (greater than \\[\\>\\] 28 days or more) or ongoing temporary treatment discontinuation.\n* Use of any of the following within the timeframes prior to the transfer visit as stated:\n* Use of haemoglobin S (HbS) polymerisation inhibitors within participation of the parent study or anticipated need for this agent during this study.\n* Use of an experimental selectin antagonist (e.g., monoclonal antibody or small molecule) within the parent study or anticipated need for such agents during this study.\n* Use of erythropoietin or other haematopoietic growth factor treatment for more than 4 consecutive weeks during the parent study or anticipated need of such agents for a maintenance treatment during this study.\n* Receiving or use of concomitant medications that are strong inducers of cytochrome P450 (CYP) 3A4 within 2 weeks of the transfer visit or anticipated need for such agents during the study.\n* Current participation in a study that is not a designated parent study, or planned participation in any other clinical study, for the duration of FLORAL.","2 Years",{"count":324,"type":22},480,[60],"Etavopivat is a new medicine under development for treating blood disorders like sickle cell disease and thalassaemia. Sickle cell disease and thalassaemia are inherited blood disorders that affect haemoglobin. Haemoglobin is the protein that carries oxygen through the body. This study is looking into how safe treatment with etavopivat is and how well it works over a long period of time. The study will last for up to 264 weeks, but it will end earlier if etavopivat is approved in the participant's country.",[27,246],{"date":284,"type":37},{"date":330,"type":37},"2025-01-10",{"date":332,"type":22},"2030-12-30",{"name":312,"class":109},106,{"id":336,"slug":337,"hasResults":12,"nctId":338,"briefTitle":339,"officialTitle":340,"acronym":4,"eligibilityCriteria":341,"healthyVolunteers":16,"sex":17,"minAge":342,"maxAge":343,"enrollmentInfo":344,"targetDuration":4,"studyType":58,"phases":345,"briefSummary":346,"conditions":347,"keywords":355,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":356,"lastUpdatePostDateStruct":357,"startDateStruct":358,"completionDateStruct":360,"leadSponsor":362,"locationsCount":45},"100571845","integrative-medicine-in-pain-management-in-sickle-cell-disease-20-100571845","NCT06725550","Integrative Medicine in Pain Management in Sickle Cell Disease, 2.0","Integrative Medicine in Pain Management in Sickle Cell Disease: Assessing the Clinical Efficacy and Neurobiological Impact With Acupuncture, 2.0","Inclusion Criteria:\n\n* Any gender\n* 14-17 (Adolescents) and 18-80 (Adults) years old\n* Right-handed\n* Either outpatient or inpatient or status changing between each other\n* Have been diagnosed with SCD (includes but not limited to SS, SC or other type) and experiencing chronic pain in the past 6 months or vaso-occlusive crisis (VOC) in the past 12 months.\n* Analgesic therapy prescribed by primary hematologists (or physicians for emergency or primary care) including pain-relieving medications (e.g. Morphine, coderin, Fentanyl, Oxycodone), Hydroxyurea (e.g. Droxia, Hydrea, Siklos), L-glutamine oral powder (Endari), Crizanlizumab (Adakveo), Voxelotor (Oxbryta), and\u002For other palliative treatment allowed, not required.\n* Willing to limit the current and the introduction of any new medications or treatment modalities for control of pain symptoms during the study visits.\n* Able to travel to the study site for participating scheduled visits (questionnaires, QST, EEG and MRI) and receive acupuncture treatments up to two times weekly for 5 weeks as scheduled.\n* We will recruit without regard to ethnicity, however, due to the genetic nature of SCD, subjects will primarily be African-American or of African descent, although there are individuals with SCD who come from Hispanic, southern European, Middle Eastern, or Asian Indian backgrounds. The ethnic distribution in our prior studies is 95% Black\u002FAfrican American with 5% Hispanic or Latino (of any race). As these are minority groups many individuals may be from lower income situations.\n* Fluent in English and capable of giving written informed consent.\n\nExclusion Criteria:\n\n* Subjects with Covid-19 suspicion or confirmation\n* Recent\u002Fongoing alternative pain management with acupuncture or acupuncture-related techniques within the last 6-months.\n* Presence of a known coagulation abnormality: Thrombocytopenia (mild thrombocytopenia with a platelets range of 51,000-100,000\u002Ful will be further evaluated for inclusion consideration), or bleeding diathesis that may preclude the safe use of acupuncture.\n* Presence of a concurrent autoimmune or inflammatory disease such as rheumatoid arthritis, systemic lupus erythematosus, inflammatory bowel disease, etc. that causes pain or any other chronic pain condition with pain greater than sickle pain.\n* Diseases\u002Fconditions history includes but not limited to:\n\n  * head injury with substantial loss of consciousness\n  * peripheral neuropathy of known cause that interferes with activities of daily living\n  * known non-SCD related Severe psychiatric illnesses (e.g. current schizophrenia, major depression with suicidal ideation).\n  * significant visual, motor, or auditory impairment that would interfere with ability to perform study visits-related activities\n* Medication:\n\nRecent (30 days) initiation or dose adjustment of stimulant medications, such as those used to treat ADD\u002FADHD (e.g., amphetamine\u002Fdextroamphetamine \\[Adderall®\\], methylphenidate, dextroamphetamine), or the fatigue associated with sleep apnea or shift work (e.g., modafinil).\n\n* Contraindications to MRI scans includes but are not limited to: surgical clips, surgical staples, metal implants, cardiac rhythmic disorders, seizure disorders, and certain metallic dental material will not be scheduled for MRI visits.\n* History vascular surgery in lower limbs or current lower limb vascular dysfunction will not receive conditioned pressure pain stimuli in the lower limb.\n* Subjects with Worker's Compensation, Workman's Compensation, civil litigation or disability claims pertinent to the subject's sickle disease; current involvement in out-of-court settlements for claims pertinent to the subject's sickle disease; or currently receiving monetary compensation as a result of any of the above.\n* Participation of other studies: Concurrent participation in other therapeutic trials with overlapping research purposes.\n* Pregnant or nursing.","14 Years","80 Years",{"count":120,"type":22},[122],"The proposed research is to determine the clinical efficacy and neurobiological mechanisms of acupuncture analgesia in patients with sickle cell disease.",[27,348,349,350,351,352,353,354],"Pain","Acupuncture","Quantitative Sensory Testing","Magnetic Resonance Imaging","Circulating Biomarkers","Electroencephalography","Functional Near-infrared Spectroscopy",[152,348,349,350,351,352,353,354],"2026-08-09",{"date":305,"type":37},{"date":359,"type":37},"2026-07-01",{"date":361,"type":22},"2031-06-28",{"name":363,"class":72},"University of Cincinnati",{"id":365,"slug":366,"hasResults":12,"nctId":367,"briefTitle":368,"officialTitle":369,"acronym":370,"eligibilityCriteria":371,"healthyVolunteers":12,"sex":17,"minAge":54,"maxAge":18,"enrollmentInfo":372,"targetDuration":4,"studyType":58,"phases":374,"briefSummary":375,"conditions":376,"keywords":4,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":377,"lastUpdatePostDateStruct":378,"startDateStruct":379,"completionDateStruct":381,"leadSponsor":383,"locationsCount":385},"100531354","phase-2-a-study-to-evaluate-the-pharmacokinetics-and-safety-of-etavopivat-in-pediatric-patients-with-sickle-cell-disease-100531354","NCT06198712","A Study to Evaluate the Pharmacokinetics and Safety of Etavopivat in Pediatric Patients With Sickle Cell Disease","A Single Arm, Open Label, Phase 1\u002F2 Study to Evaluate the Pharmacokinetics and Safety of Etavopivat in Pediatric Patients With Sickle Cell Disease","HIBISCUS KIDS","Inclusion Criteria:\n\n* Type of Participant and Disease Characteristics\n\n  1. Patient's parent, legal guardian, or legal representative has provided documented informed consent and patients have provided age-appropriate assent\n  2. Age greater than or equal to (≥) 6 months and lesser than (\\\u003C) 18 years of age at time of enrollment, according to the enrolling cohort:\n\n     * Cohort 1: age 12 to \\\u003C 18 years (adolescents)\n     * Cohort 2: age 6 to \\\u003C 12 years\n     * Cohort 3: age 2 to \\\u003C 6 years\n     * Cohort 4: age 6 months to \\\u003C 2 years\n  3. Patient has confirmed diagnosis of SCD\n\n     • Documentation of SCD genotype (HbSS, HbSβ0-thalassemia or other sickle cell syndrome variants) based on prior history of laboratory testing. Molecular genotyping is not required. SCD genotype may be determined from the results of Hb electrophoresis, high-performance liquid chromatography (HPLC), or similar testing. Note that Hb electrophoresis is performed by the local laboratory at Screening.\n  4. Hemoglobin ≥ 5.5 and lesser than or equal to (≤) 10.5 grams per deciliter (g\u002FdL)\n  5. Pediatric patients with severe SCD, as defined by at least 1 of the following:\n\n     * 2-15 episodes of documented VOC within the 12 months prior to screening. Documentation must exist in the patient's medical record prior to screening. Events based solely on patient recall without supporting documentation should not be counted towards eligibility.\n     * Hospitalization for any SCD-related complication in the last 12 months prior to starting study treatment\n     * Proteinuria, defined as an albumin:creatinine ratio (ACR) \\> 100 mg\u002Fg on 2 measures (separated by ≥ 1 month) as an indicator of early renal disease\n     * History of a conditional TCD in the last 12 months prior to starting study treatment, but not currently being treated with chronic transfusion therapy (applicable to participants \\> 2 years of age). Conditional TCD is defined as a TAMMV of 170-199 cm\u002Fs by TCD or 155-184 cm\u002Fs by imaging TCD (TCDi).\n  6. For participants taking hydroxyurea (HU), the dose of HU (mg\u002Fkg) must be stable (no more than a 20% change in dosing) for at least 90 days prior to start of study treatment with no anticipated need for dose adjustments during the study, in the opinion of the Investigator\n  7. Patients on crizanlizumab or L-glutamine treatment at the time of consent may be eligible if they:\n\n     * Have been on a stable dose for ≥ 12 months at the time of consent (ie, no changes to the dose except for changes to weight or for safety reasons)\n     * For patients on crizanlizumab, have been ≥ 80% compliant with the planned regimen during the 12 months prior to the time of consent\n  8. Female patients of childbearing potential who are using acceptable methods of contraception and agree not to donate ova from study start to 90 days after the last dose of study drug, and male patients who are willing to use acceptable methods of contraception and agree not to donate sperm, from study start to 90 days after the last dose of study drug.\n\nExclusion Criteria:\n\n* Medical Conditions\n\n  1. Female who is breastfeeding or pregnant\n  2. More than 15 VOCs within the 12 months prior to starting study treatment that required a hospital, emergency room (ER), or clinic visit\n  3. Hospitalized for sickle cell crisis or other vaso-occlusive event occurring in the 14 days prior to starting study treatment\n  4. Abnormal TCD in the 12 months prior to starting study treatment\n\n     Prior\u002FConcomitant Therapy\n  5. Patients receiving regularly scheduled blood (RBC) transfusion therapy (also termed chronic, prophylactic, or preventive transfusion)\n  6. Received any blood products within 30 days of starting study treatment\n  7. Receiving or use of concomitant medications that are strong inducers of cytochrome P450 (CYP) 3A4\u002F5 within 2 weeks of starting study treatment\n  8. Use of voxelotor within 28 days prior to starting study treatment or anticipated need for this agent during the study\n  9. Receipt of erythropoietin or other hematopoietic growth factor treatment within 28 days of starting study treatment or anticipated need for such agents during the study\n  10. Receipt of prior cellular based therapy (eg, hematopoietic cell transplant, gene modification therapy)",{"count":373,"type":22},95,[212],"The purpose of this study is to evaluate the pharmacokinetics and safety of etavopivat in paediatric participants with sickle cell disease (SCD). Participants will receive etavopivat and will be enrolled in a staggered manner, starting with the oldest age group and followed sequentially by younger cohorts after review of pharmacokinetic and safety data from the preceding cohort. All participants will undergo a 24-week primary treatment period followed by a 72-week extension treatment period to further evaluate long-term safety and pharmacokinetics of etavopivat. The total duration of the study will be approximately 96 weeks.",[27],"2026-08-07",{"date":305,"type":37},{"date":380,"type":37},"2023-01-12",{"date":382,"type":22},"2029-08-08",{"name":384,"class":109},"Forma Therapeutics, Inc.",18,{"id":387,"slug":388,"hasResults":12,"nctId":389,"briefTitle":390,"officialTitle":391,"acronym":392,"eligibilityCriteria":393,"healthyVolunteers":12,"sex":17,"minAge":18,"maxAge":4,"enrollmentInfo":394,"targetDuration":4,"studyType":58,"phases":396,"briefSummary":397,"conditions":398,"keywords":399,"overallStatus":405,"whyStopped":4,"lastUpdateSubmitDate":406,"lastUpdatePostDateStruct":407,"startDateStruct":408,"completionDateStruct":410,"leadSponsor":412,"locationsCount":45},"100642743","phase-1-feasibility-and-acceptability-of-amani-100642743","NCT07648043","Feasibility and Acceptability of Amani","Feasibilty and Acceptability of Amani, a Virtual Reality Application for Adults With Sickle Cell Disease","Amani","Inclusion Criteria:\n\n* Adults (≥ 18 years) who are diagnosed with sickle cell disease\n* Primarily followed at the Massachusetts General Hospital (MGH) Sickle Cell Disease Center\n* Have ability to comprehend and speak English given Amani is currently only available in English.\n\nExclusion Criteria:\n\n* Have severe psychiatric (psychotic disorder, bipolar disorder) or cognitive impairment which the treating hematologist believes would preclude ability to participate in the clinical trial",{"count":395,"type":22},40,[169,212],"Adults with sickle cell disease (SCD) experience severe pain, emotional distress, and social isolation that diminish their quality of life. This project will test Amani, a novel virtual reality supportive care intervention designed to improve coping skills and strengthen peer support. If feasible and acceptable, Amani offers an accessible digital supportive care intervention to improve psychological well-being and quality of life among individuals living with SCD.",[27],[400,401,402,403,404],"sickle cell disease","virtual reality","non-pharmacologic analgesia","social support","coping","NOT_YET_RECRUITING","2026-08-05",{"date":377,"type":37},{"date":409,"type":22},"2026-11-01",{"date":411,"type":22},"2028-06-30",{"name":413,"class":72},"Massachusetts General Hospital",{"id":415,"slug":416,"hasResults":12,"nctId":417,"briefTitle":418,"officialTitle":418,"acronym":4,"eligibilityCriteria":419,"healthyVolunteers":16,"sex":17,"minAge":144,"maxAge":4,"enrollmentInfo":420,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":422,"conditions":423,"keywords":4,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":406,"lastUpdatePostDateStruct":424,"startDateStruct":426,"completionDateStruct":428,"leadSponsor":430,"locationsCount":45},"100501509","gene-therapy-communication-use-of-a-needs-assessment-to-drive-decision-aids-for-gene-therapy-for-rare-diseases-genetx-100501509","NCT05810181","Gene Therapy Communication: Use of a Needs Assessment to Drive Decision-AIDS for Gene Therapy for Rare Diseases (GENETX)","Inclusion Criteria:\n\n1. For Group 1 participants only (Undergone Gene Therapy):\n\n   * Parent\u002Fcaregiver whose child has undergone gene therapy. OR Parent\u002Fcaregiver of a child who died after receiving gene therapy at least 6 months prior to enrollment, but no more than 24 months prior to enrollment, to be contacted no sooner than 3 months after the death has occurred and no longer than 2 years. OR Patients age 8 and above who have undergone gene therapy.\n   * Willingness to participate in one-on-one video interview with a study team member using a personal mobile device or computer with working internet connection.\n   * Must be willing to provide verbal informed consent.\n   * Release of information form signed by participant providing our study team with permission to contact healthcare provider to verify their diagnosis and receipt of gene therapy (if received).\n   * Successful verification of diagnosis of rare genetic disease targeted for treatment using gene therapy.\n   * A positive confirmation on receipt of gene therapy and type received from their healthcare provider (only for those received gene therapy).\n2. For Group 2 participants only (Offered, but did not Undergo Gene Therapy):\n\n   * Parent\u002Fcaregiver of children (or patients 8 and above ) with a rare genetic disease who had been offered but were not eligible for a trial or decided against receiving gene therapy.\n   * Willingness to participate in one-on-one video interview with a study team member using a personal mobile device or computer with working internet connection.\n   * Must be willing to provide verbal informed consent.\n   * Signed release of information form providing GeneTx study team with permission to contact participant's healthcare provider to verify the diagnosis.\n   * Successful verification of diagnosis of rare genetic disease targeted for treatment using gene therapy.\n3. For Group 3 participants only (Provider Interviews):\n\n   * Healthcare worker who has provided care to ≥ 2 patients receiving gene therapy.\n   * Willingness to participate in one-on-one video (or in-person) interview with a study team member using a personal mobile device or computer with working internet connection.\n   * Informed consent from a study participant.\n4. For Group 4 participants only (Undergone Gene Therapy for Bone Marrow Failure Condition):\n\n   * Parent\u002Fcaregiver whose child has undergone gene therapy. OR Parent\u002Fcaregiver of a child who died after receiving gene therapy at least 6 months prior to enrollment, but no more than 24 months prior to enrollment, to be contacted no sooner than 3 months after the death has occurred and no longer than 2 years. OR Patients age 8 and above who have undergone gene therapy.\n   * Willingness to participate in one-on-one video interview with a study team member using a personal mobile device or computer with working internet connection.\n   * Must be willing to provide verbal informed consent.\n   * Release of information form signed by participant providing our study team with permission to contact healthcare provider to verify their diagnosis and receipt of gene therapy (if received).\n   * Successful verification of diagnosis of rare genetic disease targeted for treatment using gene therapy.\n   * A positive confirmation on receipt of gene therapy and type received from their healthcare provider (only for those received gene therapy).\n5. For Group 5 participants only (Offered, but did not Undergo Gene Therapy for Bone Marrow Failure Condition ):\n\n   * Parent\u002Fcaregiver of children (or patients 8 and above ) with a bone marrow failure disease who had been offered but were not eligible for a trial or decided against receiving gene therapy.\n   * Willingness to participate in one-on-one video interview with a study team member using a personal mobile device or computer with working internet connection.\n   * Must be willing to provide verbal informed consent.\n   * Signed release of information form providing GeneTx study team with permission to contact participant's healthcare provider to verify the diagnosis.\n   * Successful verification of diagnosis of rare genetic disease targeted for treatment using gene therapy.\n6. For Group 6 participants only (Never offered gene therapy for Bone Marrow Failure Condition):\n\n   * Parent\u002Fcaregiver of children (or patients 8 and above ) with a bone marrow failure disease who had not been offered gene therapy.\n   * Willingness to participate in one-on-one video interview with a study team member using a personal mobile device or computer with working internet connection.\n   * Must be willing to provide verbal informed consent.\n   * Signed release of information form providing GeneTx study team with permission to contact participant's healthcare provider to verify the diagnosis.\n   * Successful verification of diagnosis of rare genetic disease targeted for treatment using gene therapy.\n7. For Group 7 participants only (Provider Interviews for Bone Marrow Failure Condition):\n\n   * Healthcare worker who has provided care to ≥ 2 patients receiving gene therapy.\n   * Willingness to participate in one-on-one video (or in-person) interview with a study team member using a personal mobile device or computer with working internet connection.\n   * Informed consent from a study participant.\n\nExclusion Criteria (for all 7 groups):\n\n* Participants who are unable to converse fluently in English will be excluded.\n* Inability or unwillingness of research participant to give verbal informed consent.\n* Participants who lack access to a computer or mobile device that supports video communications will be excluded.\n* Condition or chronic illness, which in the opinion of the PI\u002FCo-I, makes participation unsafe or untenable (i.e., cognitive impairment, concurrent acute morbidity).",{"count":421,"type":22},145,"This prospective mixed-method interview study aims to qualitatively describe the beliefs, attitudes, and informational needs around gene therapy for rare pediatric diseases among patients and parents of children with a rare disease targeted for treatment using gene therapy techniques. Using learned insights, the team will develop an online platform providing educational content and patient decision aids for patients and their families.",[27],{"date":425,"type":37},"2026-08-10",{"date":427,"type":37},"2023-06-01",{"date":429,"type":22},"2027-12",{"name":431,"class":72},"St. Jude Children's Research Hospital",{"id":433,"slug":434,"hasResults":12,"nctId":435,"briefTitle":436,"officialTitle":437,"acronym":438,"eligibilityCriteria":439,"healthyVolunteers":12,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":440,"targetDuration":442,"studyType":23,"phases":4,"briefSummary":443,"conditions":444,"keywords":4,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":455,"lastUpdatePostDateStruct":456,"startDateStruct":457,"completionDateStruct":459,"leadSponsor":461,"locationsCount":45},"100650767","domestication-and-implementation-of-the-pen-plus-clinical-model-in-the-zambian-health-system-100650767","NCT07753681","Domestication and Implementation of the PEN-Plus Clinical Model in the Zambian Health System","PEN-Plus Initiation Grant Opportunity: Domestication and Implementation of the PEN-Plus Clinical Model in the Zambian Health System","PEN Plus","Inclusion Criteria:\n\n* Presenting with chronic NCDs\n\nExclusion Criteria:\n\n* Refusing to be followed up prospectively for routine visits",{"count":441,"type":22},2084,"1 Month","Cognizant of the prevalence of complicated non communicable diseases (NCD) and the attendant capacity problems faced by the health workers in primary care settings, we propose to adapt and pilot the Package of Essential Non-communicable Diseases (PEN) Plus intervention using the Interactive Systems Framework (ISF) and then implement and monitor the impact. The ISF framework proposes and organizes several implementation strategies to achieve Evidence Based Implementation (EBI) adaptation. We will apply these strategies at 2 first level hospitals (Peri-Urban and Rural) to ensure local adaptation and work towards scaling up of the WHO-PEN Plus in the rest of Zambia. This process will be inclusive, involving a Stakeholder Consultation Group that shall include the Zambian Non-Communicable diseases and injuries (NCDI) Poverty Commission and shall report bi-annually to a Project Advisory Board (PAB) chaired by the Permanent Secretary of the Ministry of Health.",[445,27,446,447,448,449,450,451,452,453,454],"Cardiac Diseases","Hypertension","Diabetes Mellitus","Heart Failure","Congenital Heart Disease","Rheumatic Heart Disease","Epilepsy","Cancer","Mental Health Disorders","Kidney Disease","2026-08-04",{"date":377,"type":37},{"date":458,"type":37},"2022-08-08",{"date":460,"type":22},"2027-09-30",{"name":462,"class":72},"Centre for Infectious Disease Research in Zambia",{"id":464,"slug":465,"hasResults":12,"nctId":466,"briefTitle":467,"officialTitle":468,"acronym":4,"eligibilityCriteria":469,"healthyVolunteers":12,"sex":17,"minAge":18,"maxAge":4,"enrollmentInfo":470,"targetDuration":4,"studyType":58,"phases":472,"briefSummary":473,"conditions":474,"keywords":475,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":455,"lastUpdatePostDateStruct":478,"startDateStruct":479,"completionDateStruct":481,"leadSponsor":483,"locationsCount":485},"100610190","phase-2-safety-of-anumigilimab-csl324-in-adults-with-sickle-cell-disease-scd-100610190","NCT07224360","Safety of Anumigilimab (CSL324) in Adults With Sickle Cell Disease (SCD)","Phase 2a, Multicenter, Randomized, Double-blind, Placebo-controlled Study to Assess the Safety of Anumigilimab (CSL324) in Adults With Sickle Cell Disease","Inclusion Criteria:\n\n* Adults aged greater than or equal to (\\>=) 18 years on the day of signing the informed consent form.\n* Confirmed diagnosis of SCD of any genotype.\n* Experienced 1 to 12 VOCs requiring a visit to a medical facility and treatment with parenteral opioids or a parenteral nonsteroidal anti-inflammatory drug within the 12 months before Screening.\n* HU Regimen:\n* a. On stable and well-tolerated Hydroxyurea (HU) regimen for at least 30 days before Screening.\n* or\n* b. HU was discontinued or refused (eg, due to concern of side effects or lack of effect).\n\nExclusion Criteria:\n\n* Absolute neutrophil count less than (\\\u003C) 2.5 ×10\\^9 cells\u002FLitre at Screening or Baseline (Week 1 Day 1).\n* If on SCD preventive medication, dose is not stable in the 30 days before Screening.",{"count":471,"type":22},63,[212],"This is a phase 2a, global, multicenter, randomized, double-blind, placebo-controlled study investigating the safety of anumigilimab administered subcutaneously (SC) at the maximum tolerated dose (MTD) in adult participants with SCD.\n\nThe primary aim of the study is to assess the safety of anumigilimab in participants with SCD. Participants will be treated for 64 weeks: for 12 weeks in the dose escalation period, where the dose will be escalated to each participant's individual MTD; and for 52 weeks at the MTD in the maintenance period.",[27],[276,476,477],"Genetic Disorder","Vaso-occlusive Crises",{"date":406,"type":37},{"date":480,"type":37},"2026-02-02",{"date":482,"type":22},"2028-06-29",{"name":484,"class":109},"CSL Behring",16,{"id":487,"slug":488,"hasResults":12,"nctId":489,"briefTitle":490,"officialTitle":491,"acronym":4,"eligibilityCriteria":492,"healthyVolunteers":12,"sex":17,"minAge":55,"maxAge":4,"enrollmentInfo":493,"targetDuration":4,"studyType":58,"phases":495,"briefSummary":496,"conditions":497,"keywords":4,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":498,"lastUpdatePostDateStruct":499,"startDateStruct":500,"completionDateStruct":502,"leadSponsor":504,"locationsCount":506},"100641605","phase-3-a-study-to-investigate-the-effect-of-mitapivat-on-transfusion-burden-in-subjects-with-sickle-cell-disease-scd-100641605","NCT07656415","A Study to Investigate the Effect of Mitapivat on Transfusion Burden in Subjects With Sickle Cell Disease (SCD)","A Phase 3, Double-Blind, Randomized, Placebo-Controlled, Multicenter Study to Evaluate the Effect of Mitapivat on Transfusion Burden in Subjects With Sickle Cell Disease","Inclusion Criteria:\n\n* Age ≥12 years.\n* Documented diagnosis of SCD (hemoglobin SS (HbSS), combined heterozygosity for hemoglobins S and C (HbSC), sickle cell hemoglobin (HbS)\u002Fβ0-thalassemia, HbS\u002Fβ+-thalassemia, or other sickle cell syndrome variants).\n* No more than 10 SCPCs in the 12 months before providing informed assent\u002Fconsent.\n* At least 1 transfusion of packed RBCs in the 12 months before informed assent\u002Fconsent.\n* Hb ≥5.5 and ≤10.5 g\u002FdL. Hb concentration must be based on an average of at least 2 Hb concentration measurements (separated by ≥7 days) collected during the Screening Period.\n* Additional signs or symptoms of hemolysis, as evidenced by any laboratory assessment during the Screening Period with\n\n  * Hb \\\u003C8 g\u002FdL, or\n  * Absolute reticulocyte count \\> upper limit of normal (ULN), or\n  * Indirect bilirubin \\>ULN, or\n  * LDH \\>ULN\n* If taking hydroxyurea, the hydroxyurea dose must be stable for at least 90 days prior to randomization. Discontinuation of hydroxyurea requires a 90-day washout prior to informed assent\u002Fconsent.\n* Women of childbearing potential (WOCBP) and pediatric female subjects who have attained menarche must be abstinent of sexual activities that may induce pregnancy as part of their usual lifestyle or agree to use a highly effective method of contraception from the time of providing informed assent\u002Fconsent, throughout the study, and for 28 days after the last dose of study drug; if the highly effective method of contraception is hormonal contraception, then an acceptable barrier method must also be used.\n* Written informed assent\u002Fconsent (for subjects under 18 years of age, or prior to the age at which a subject is considered legally an adult per local regulations, parental permission and child assent will be obtained) must be obtained before any study-related procedures are conducted and subjects must be willing to comply with all study procedures for the duration of the study.\n\nExclusion Criteria:\n\n* Pregnant, breastfeeding, or parturient.\n* Receiving regularly scheduled RBC transfusion therapy (also termed chronic, prophylactic, or preventative transfusion); episodic transfusion in response to worsened anemia or vaso-occlusive crisis (VOC) is permitted. Additionally, a subject who requires episodic transfusion(s) may not have received a transfusion(s) within 60 days before providing informed assent\u002Fconsent or during the Screening Period.\n* Hospitalized for an SCPC and\u002For other vaso-occlusive event within 14 days prior to providing informed assent\u002Fconsent or during the Screening Period. A hospitalization is defined as an in-patient admission to a hospital that may or may not be preceded by an emergency room or outpatient clinic visit. A visit to an emergency room that does not result in an in-patient admission does not meet the definition of hospitalization.\n* Currently receiving treatment with a disease-modifying therapy for SCD (eg, voxelotor, crizanlizumab, L-glutamine), with the exception of hydroxyurea. The last dose of voxelotor, crizanlizumab, and L-glutamine must have been administered at least 90 days before randomization.\n* History of any malignancy except for nonmelanomatous skin cancer in situ, cervical carcinoma in situ, or breast carcinoma in situ. Subjects must not have active disease or received anticancer treatment ≤5 years before providing informed assent\u002Fconsent.\n* History of active and uncontrolled cardiac or pulmonary disease within 6 months before randomization, including but not limited to:\n\n  * New York Heart Association Class III or IV heart failure or clinically significant dysrhythmia.\n  * Myocardial infarction or unstable angina pectoris; hemorrhagic, embolic, or thrombotic stroke; deep venous thrombosis; or pulmonary or arterial embolism.\n  * Heart rate-corrected QT interval using Fridericia's method of ≥470 milliseconds for female subjects and ≥450 milliseconds for male subjects, except for right or left bundle branch block.\n  * Severe pulmonary fibrosis as defined by severe hypoxia, evidence of right-sided heart failure, and radiographic pulmonary fibrosis \\>50%.\n  * Severe pulmonary hypertension as defined by severe symptoms associated with hypoxia, right heart failure, and oxygen indicated.\n* Hepatobiliary disorders including but not limited to:\n\n  * Liver disease with histopathological evidence or clinical diagnosis of cirrhosis or severe fibrosis.\n  * Clinically symptomatic cholelithiasis or cholecystitis (subjects with prior cholecystectomy are eligible).\n  * History of drug-induced cholestatic hepatitis.\n  * Aspartate aminotransferase (AST) \\>2.5× ULN (unless due to hemolysis and\u002For hepatic iron deposition) and alanine aminotransferase (ALT) \\>2.5× ULN (unless due to hepatic iron deposition).\n* Renal dysfunction as defined by an estimated glomerular filtration rate \\\u003C30 milliliters per minute (mL\u002Fmin)\u002F1.73-meter square (m\\^2) by the Chronic Kidney Disease Epidemiology Collaboration creatinine equation.\n* Active uncontrolled infection requiring systemic antimicrobial therapy.\n* Positive test for hepatitis C virus (HCV) antibody (Ab) with evidence of active HCV infection, or positive test for hepatitis B surface antigen (HBsAg).\n* Positive test for human immunodeficiency virus (HIV)-1 antibody or HIV-2 antibody.\n* History of major surgery (including splenectomy) ≤16 weeks before providing informed assent\u002Fconsent and\u002For planning on undergoing a major surgical procedure during the study.\n* Current enrollment or past participation (within 90 days before randomization or a time frame equivalent to 5 half-lives of the investigational study drug, whichever is longer) in any other clinical study involving an investigational study drug or device.\n* Past enrollment in a clinical study involving mitapivat.\n* Prior exposure to gene therapy or prior bone marrow or stem cell transplantation.\n* Currently receiving treatment with hematopoietic stimulating agents; the last dose must have been administered at least 90 days before randomization.\n* Receiving products that are strong inhibitors of Cytochrome3A4\u002F5 (CYP3A4\u002F5) that have not been stopped for ≥5 days or a time frame equivalent to 5 half-lives (whichever is longer), or strong inducers of Cytochrome3A4 (CYP3A4) that have not been stopped for ≥28 days or a time frame equivalent to 5 half-lives (whichever is longer), prior to randomization.\n* Receiving anabolic steroids that have not been stopped for at least 4 weeks before randomization. Testosterone replacement therapy to treat hypogonadism is allowed; the testosterone dose and preparation must be stable for ≥10 weeks before randomization.\n* Known allergy to mitapivat or tablet excipients (microcrystalline cellulose, croscarmellose sodium, sodium stearyl fumarate, mannitol, magnesium stearate, and the Opadry Blue II film-coat \\[hypromellose, titanium dioxide, lactose monohydrate, triacetin, and FD\\&C Blue #2\\]).\n* Any medical, hematological, psychological, or behavioral condition(s), including alcohol use disorder, or prior or current therapy that, in the opinion of the Investigator, may confer an unacceptable risk to participating in the study and\u002For could confound the interpretation of the study data. Also excluded are:\n\n  * Subjects unable to receive RBC transfusions (eg, due to presence of allo-antibodies, lack of blood availability).\n  * Subjects deprived of liberty by court or administrative decision (eg, persons accommodated in an institution by order of an authority or court).\n  * Subjects undergoing psychiatric care without their consent.\n  * Subjects admitted to a health or social establishment for purposes other than research.\n  * Adult Subjects subject to a legal protection measure (guardian, curatorship, legal protection).\n  * Subjects unable to express their consent.\n* Receiving herbal or dietary supplements that have not been stable in dose and preparation for ≥8 weeks prior to randomization.",{"count":494,"type":22},159,[60],"The primary objective of this study is to determine the effect of mitapivat versus placebo on the need for transfusions in subjects with SCD.",[27],"2026-08-03",{"date":455,"type":37},{"date":501,"type":37},"2026-07-21",{"date":503,"type":22},"2030-08",{"name":505,"class":109},"Agios Pharmaceuticals, Inc.",3,{"id":508,"slug":509,"hasResults":12,"nctId":510,"briefTitle":511,"officialTitle":512,"acronym":4,"eligibilityCriteria":513,"healthyVolunteers":12,"sex":17,"minAge":514,"maxAge":515,"enrollmentInfo":516,"targetDuration":4,"studyType":58,"phases":518,"briefSummary":519,"conditions":520,"keywords":522,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":526,"lastUpdatePostDateStruct":527,"startDateStruct":529,"completionDateStruct":531,"leadSponsor":533,"locationsCount":45},"100641763","phase-1-partial-stem-cell-transplant-for-sickle-cell-disease-from-matched-donors-100641763","NCT07599176","Partial Stem Cell Transplant for Sickle Cell Disease From Matched Donors","Matched Related Donor Non-myeloablative Hematopoietic Cell Transplantation With Alemtuzumab, 400 cGy TBI, and Abatacept for Sickle Cell Disease and Beta-Thalassemia","* INCLUSION CRITERIA\n\nRECIPIENT:\n\nParticipants must fulfill one disease category (1 or 2) and 3\n\n1. Patients with sickle cell disease at high risk for disease related morbidity or mortality, defined by having an end-organ damage (A, B, C, D, OR E) or complication(s) not ameliorated by sickle cell-specific therapies (F):\n\n   A. Stroke defined as a clinically significant neurologic event that is accompanied by an infarct on cerebral MRI ORb\n\n   B. Abnormal trans-cranial Doppler examination (\\>=200 cm\u002Fs); OR\n\n   C. Silent cerebral infarct defined as an infarct-like lesion based on an MRI signal abnormality at least 3 mm in one dimension and visible in two planes on FLAIR or T2- weighted images (or similar image with 3D imaging) and documented neurological examination performed by a neurologist demonstrating the participant has a normal neurologic examination, or an abnormality on examination that could not be explained by the location of the brain lesion(s); OR\n\n   D. Sickle cell related renal insufficiency defined by a creatinine level \\>=1.5 times the upper limit of normal and kidney biopsy consistent with sickle cell nephropathy OR nephrotic syndrome OR creatinine clearance \\\u003C60mL\u002Fmin\u002F1.73m2 for patients \\\u003C16 years of age or \\\u003C50mL\u002Fmin for patients \\>16 years of age OR requiring peritoneal or hemodialysis; OR\n\n   Age (Years): \\\u003C= 5 \u002F Upper limit of normal serum creatinine (mg\u002Fdl): 0.8\n\n   Age (Years): 5 \\\u003C age \\\u003C= 10 \u002F Upper limit of normal serum creatinine (mg\u002Fdl): 1.0\n\n   Age (Years): 10 \\\u003C age \\\u003C= 15 \u002F Upper limit of normal serum creatinine (mg\u002Fdl): 1.2\n\n   Age (Years): \\> 15 \u002F Upper limit of normal serum creatinine (mg\u002Fdl): 1.3\n\n   E. Tricuspid regurgitant jet velocity (TRV) of \\>=2.5 m\u002Fs in patients at least 3 weeks after a vaso-occlusive crisis; OR\n\n   F. Recurrent severe priapism defined as at least two episodes of an erection lasting \\>=4 hours requiring medical intervention (e.g. aspiration, injection of vasoconstrictor, prior penile surgery.); OR\n\n   G. Sickle hepatopathy defined as EITHER ferritin \\>1000mcg\u002FL OR direct bilirubin \\>0.4 mg\u002FdL at baseline; OR\n\n   H. Vaso-occlusive crises: more than 1 hospital admission per year while on a therapeutic dose of sickle cell treatment \u002Fmedication; OR\n\n   I. Acute chest syndrome (ACS): any ACS while on sickle cell treatment \u002Fmedication\n2. Patients with beta-thalassemia who have grade 2 or 3 iron overload, determined by the presence of 2 or more of the following:\n\n   * Portal fibrosis by liver biopsy\n   * Inadequate chelation history (defined as failure to maintain adequate compliance with chelation with deferoxamine initiated within 18 months of the first transfusion and administered at least 5 days each week)\n   * Hepatomegaly of greater than 2 cm below the costochondral margin or by other imaging scans\n3. Non disease specific\n\n   * Ages \\>=4 years and less than 65 years old\n   * Fully matched human leukocyte antigen (HLA) donors at A, B, C, and DR loci (8 of 8 or 10 of 10)\n   * Ability to comprehend and willing to sign an informed consent, assent obtained from minors when applicable. Negative serum or urine beta-HCG, when applicable\n   * Agree to use birth control throughout the study and 3 months after abatacept or sirolimus administration.\n\n     * Female subjects must agree to use a medically acceptable method of birth control such as oral contraceptive, intrauterine device, barrier and spermicide, or implant\u002Finjection from start of screening until immunosuppression is stopped.\n     * Male subjects must agree to use effective contraception (including condoms) from start of screening until immunosuppression is stopped.\n\nDONOR:\n\n* Fully matched human leukocyte antigen (HLA) donors at A, B, C, and DR loci (8 of 8 or 10 of 10) are intended for this study.\n* Donors age 4 or older and \\>=15 kg (or weight deemed acceptable by IR for line placement, DTM for apheresis, and pediatric consult service) eligible to donate hematopoietic stem cells, are eligible for this study.\n* Donors will be evaluated in accordance with existing Standard NIH Policies and Procedures for determination of eligibility and suitability for clinical donation. Donors will sign on a separate protocol, 20-H-0099 NHLBI standard of care protocol for the mobilization and collection of HSCs. Note that participation in this study is offered to all eligible donors, but is not required for a donor to make a stem cell donation, so it is possible that not all donors will enroll onto this study.\n\nEXCLUSION CRITERIA\n\nRECIPIENT:\n\n* Karnofsky or Lanksy performance status of \\\u003C40\n* Diffusing capacity of carbon monoxide \\\u003C35% predicted: DLCO corrected for hemoglobin or KCO (corrected for lung volume). This criterion may be omitted in young children (e.g. near age 5) or other individuals who may have difficulty understanding or complying with instructions of testing.\n* Baseline oxygen saturation of \\\u003C85% or PaO2 \\\u003C70\n* Left ventricular ejection fraction: \\\u003C35% estimated by ECHO\n* Transaminases \\>5x upper limit of normal for age\n* Evidence of uncontrolled bacterial, viral, or fungal infections (currently taking medication and progression of clinical symptoms) within one month prior to starting the conditioning regimen\n* Major anticipated illness or organ failure incompatible with survival from HCT\n* Pregnant or breastfeeding\n\nDONOR:\n\n* Pregnant or breastfeeding\n* Cognitively impaired subjects","4 Years","65 Years",{"count":517,"type":22},90,[169,212],"This is a non-ablative (partial) stem cell transplant for patients with severe sickle cell disease or beta-thalassemia requiring red cell transfusions. The intensity of the transplant is slightly increased from our previous transplant regimens. The goal is to aim for higher percentage of donor cells to stably remain in the recipients long term.",[27,521],"Beta-thalassemia",[27,523,524,525],"Beta-Thalassemia","Stem Cell Transplant","Chimerism","2026-07-28",{"date":528,"type":37},"2026-07-29",{"date":530,"type":37},"2026-07-08",{"date":532,"type":22},"2035-06-30",{"name":534,"class":44},"National Heart, Lung, and Blood Institute (NHLBI)",{"id":536,"slug":537,"hasResults":12,"nctId":538,"briefTitle":539,"officialTitle":540,"acronym":541,"eligibilityCriteria":542,"healthyVolunteers":12,"sex":17,"minAge":543,"maxAge":515,"enrollmentInfo":544,"targetDuration":4,"studyType":58,"phases":546,"briefSummary":547,"conditions":548,"keywords":4,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":526,"lastUpdatePostDateStruct":549,"startDateStruct":550,"completionDateStruct":552,"leadSponsor":554,"locationsCount":556},"100591087","phase-3-the-efficacy-and-safety-of-rilzabrutinib-in-participants-aged-10-to-65-years-with-sickle-cell-disease-100591087","NCT06975865","The Efficacy and Safety of Rilzabrutinib in Participants Aged 10 to 65 Years With Sickle-cell Disease","A 52-week, Multicenter, Randomized, Double-blind, Placebo-controlled, Parallel-group, Flexible-adaptive, Group Sequential Study to Evaluate the Efficacy and Safety of Rilzabrutinib in Participants Aged 10 to 65 Years With Sickle-cell Disease","LIBRA","Inclusion Criteria:\n\n* Participants who have been diagnosed with SCD.\n* Participants who have had between ≥2 and ≤10 episodes of documented clinical VOC within 12 months of the screening events.\n* Participants who are either not on hydroxyurea and\u002For L-glutamine at the Screening Visit and does not plan to receive them during the course of the study or has received HU and\u002For L-glutamine for a minimum of 6 months. Participants on hydroxyurea and\u002For L-glutamine must have been on a stable weight-based dose level (mg\u002Fkg) for at least 3 months prior to the Screening Visit, with the intent to continue at the same weight-based dose level for the duration of the study, except for safety reasons.\n* Participants with Eastern Cooperative Oncology Group (ECOG) performance status grade 2 or lower.\n* Contraceptive use by men and women should be consistent with local regulations regarding the methods of contraception for those participating in clinical studies.\n* For participants ≥10 to \\\u003C18 years of age: the parent(s)\u002Flegal guardian(s) must provide written informed consent prior to any study-related procedures being performed.\n\nExclusion Criteria:\n\n* Participants are excluded from the study if any of the following criteria apply: Participants with medical history of lymphoma, leukemia, or any malignancy within the past 5 years except for basal cell or squamous epithelial carcinomas of the skin that have been resected with no evidence of metastatic disease for the past 3 years.\n* Clinically relevant cardiac abnormality, in the opinion of the Investigator or electrocardiogram (ECG) findings.\n* Participants with history of stroke, or history of abnormal transcranial doppler.\n* Participants with uncontrolled or active HBV infection and\u002For HCV infection including those receiving antiviral therapy at the time of screening.\n* HIV infection.\n* A history of active or latent tuberculosis (TB)\n* Positive COVID-19 molecular test.\n* Participant is taking or has received crizanlizumab (ADAKVEO®) within 90 days and\u002For voxelotor (OXBRYTA®) within 30 days prior to the Screening visit.\n\nThe above information is not intended to contain all considerations relevant to a patient's potential participation in a clinical trial.","10 Years",{"count":545,"type":22},192,[60],"This is a multicenter, randomized, double-blind, placebo-controlled, parallel-group, flexible-adaptive, group-sequential study (Part A), followed by an open-label LTE period (Part B) to investigate the efficacy, and safety of rilzabrutinib in participants with sickle-cell disease (SCD).\n\nStudy details include:\n\n* Study duration: a 52-week double-blind period (Part A), followed by an open-label LTE period (Part B). Double-blind period has two parts, 50% (adult only) until the interim analysis (a proof-concept part analogous to a phase 2b study), and 50% (adult and children) after the interim analysis. Only the participants who complete double-blind treatment period (Part A) are eligible to continue to the LTE period. The duration of the LTE period (Part B) will be from the first-participant-in (FPI)-LTE (Part B) until the last participant who enters the LTE has completed 52 weeks.\n* Treatment duration: 52-week double-blind period (Part A); LTE period (Part B) from the (FPI until the last participant who enters the LTE has completed 52 weeks.\n* Visit frequency: Week visits based on the Schedule of Assessments.",[27],{"date":528,"type":37},{"date":551,"type":37},"2025-08-12",{"date":553,"type":22},"2028-12-29",{"name":555,"class":109},"Sanofi",53,{"id":558,"slug":559,"hasResults":12,"nctId":560,"briefTitle":561,"officialTitle":562,"acronym":563,"eligibilityCriteria":564,"healthyVolunteers":12,"sex":17,"minAge":565,"maxAge":566,"enrollmentInfo":567,"targetDuration":4,"studyType":58,"phases":569,"briefSummary":570,"conditions":571,"keywords":4,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":572,"lastUpdatePostDateStruct":573,"startDateStruct":574,"completionDateStruct":576,"leadSponsor":578,"locationsCount":579},"100243479","phase-1-arginine-therapy-for-the-treatment-of-pain-in-children-with-sickle-cell-disease-100243479","NCT02447874","Arginine Therapy for the Treatment of Pain in Children With Sickle Cell Disease","Arginine Therapy for the Treatment of Vaso-Occlusive Events in Children With Severe Sickle Cell Disease","R34 pK\u002FPD","Inclusion Criteria:\n\n* Established diagnosis of sickle cell disease--Hemoglobin SS (Hb-SS) or Sβᴼ-thalassemia\n* 7-21 years of age\n* Weight \\>= 25kg (55lbs)\n* Pain requiring medical care in an acute care setting (emergency department (ED), hospital ward, day hospital, clinic) requiring parenteral opioids, not attributable to non-sickle cell causes.\n\nExclusion Criteria:\n\n* Decision to discharge home from acute care setting.\n* Diagnosis of sickle cell disease with any of the following types: hemoglobin SC disease (HbSC), hemoglobin beta thalassemia (Hb-Beta Thal), hemoglobin SD disease (HbSD), hemoglobin SE disease (HbSE), hemoglobin SO disease (HbSO), hemoglobin AS carrier (Hb AS)\n* Hemoglobin less than 5 gm\u002FdL\n* Immediate Red cell transfusion anticipated\n* Renal dysfunction: Creatinine \\>1.0 or 2 x baseline\n* Mental status or neurological changes\n* Acute stroke or clinical concern for stroke\n* Pregnancy\n* Allergy to arginine\n* Previous hospitalization \\\u003C 7 days\n* Use of inhaled nitric oxide, sildenafil or arginine within the last 14 days\n* Not an appropriate candidate in the investigator's judgement","7 Years","21 Years",{"count":568,"type":22},21,[169,212],"The purpose of this study is to determine whether giving extra arginine to patients with sickle cell disease seeking treatment for vaso-occlusive painful events (VOE) will decrease pain scores, decrease need for pain medications or decrease length of hospital stay or emergency department visit.",[27],"2026-07-27",{"date":528,"type":37},{"date":575,"type":4},"2015-05",{"date":577,"type":22},"2028-01",{"name":158,"class":72},2,{"id":581,"slug":582,"hasResults":12,"nctId":583,"briefTitle":584,"officialTitle":585,"acronym":586,"eligibilityCriteria":587,"healthyVolunteers":12,"sex":17,"minAge":514,"maxAge":515,"enrollmentInfo":588,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":590,"conditions":591,"keywords":595,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":601,"lastUpdatePostDateStruct":602,"startDateStruct":603,"completionDateStruct":605,"leadSponsor":607,"locationsCount":609},"100451089","cooperative-assessment-of-late-effects-for-scd-curative-therapies-100451089","NCT05153967","Cooperative Assessment of Late Effects for SCD Curative Therapies","U01 Cooperative Assessment of Late Effects for Sickle Cell Disease Curative Therapies","COALESCE","Inclusion Criteria\n\n* Confirmed laboratory diagnosis of SCD\n* Ability to give informed consent\n* Ability to provide pre- and post-curative therapy data\n* Treated with either one HSCT or with standard disease-modifying therapy\n\nExclusion Criteria\n\n•History of non-compliance",{"count":589,"type":22},750,"Sickle Cell Disease is one of the most common genetic diseases in the United States, occurring in approximately 1 in 400 births. Approximately 100,000 individuals are diagnosed with SCD in the United States. Mortality for children with SCD has decreased substantially over the past 4 decades, with \\>99% of those born in high resource settings, including the United States, France, and England, now surviving to 18 years of age. However, the life expectancy of adults with SCD is severely shortened. Dysfunction of the heart, lung, and kidney is directly associated with decreased life expectancy. With the variety of curative therapies that are now available for SCD, long-term health outcomes studies are time-sensitive. As of now, efforts to determine long-term health outcomes following curative therapies for SCD have been limited. Though curative therapies initially should provide a cure for symptoms of SCD, there is the risk of late health outcomes to consider. Defining health outcomes following curative therapy is essential to improve personalized decision-making when considering curative versus disease-modifying therapeutic options. The primary goal of this study is to determine whether curative therapies for individuals with SCD will result in improved or worsening heart, lung, and kidney damage when compared to individuals with SCD receiving standard therapy. The investigators will also explore whether certain genes are associated with a good or bad outcome after curative therapy for SCD.",[27,592,593,594],"Pulmonary Disease","Renal Disease","Heart Disease",[596,597,598,599,600],"Myeloablative Autologous Gene Editing","Myeloablative Autologous Gene Therapy","Myeloablative allo-HSCT","Nonmyeloablative allo-HSCT","Disease-Modifying Therapy","2026-07-24",{"date":572,"type":37},{"date":604,"type":37},"2022-07-12",{"date":606,"type":22},"2027-02",{"name":608,"class":72},"Vanderbilt University Medical Center",5,{"id":611,"slug":612,"hasResults":12,"nctId":613,"briefTitle":614,"officialTitle":615,"acronym":616,"eligibilityCriteria":617,"healthyVolunteers":12,"sex":17,"minAge":54,"maxAge":566,"enrollmentInfo":618,"targetDuration":4,"studyType":58,"phases":619,"briefSummary":620,"conditions":621,"keywords":622,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":601,"lastUpdatePostDateStruct":627,"startDateStruct":628,"completionDateStruct":630,"leadSponsor":631,"locationsCount":291},"100260933","phase-2-myeloablative-conditioning-prophylactic-defibrotide-and-haplo-allosct-for-patients-with-sickle-cell-disease-100260933","NCT02675959","Myeloablative Conditioning, Prophylactic Defibrotide and Haplo AlloSCT for Patients With Sickle Cell Disease","The Safety and Efficacy of Prophylactic Defibrotide Administration in Children, Adolescents, and Young Adults With Sickle Cell Disease or Beta Thalassemia Following Myeloablative Conditioning (MAC) and Haploidentical or Matched Unrelated Donor (MUD) Stem Cell Transplantation Utilizing CD34 Enrichment and T-Cell (CD3) Addback","NYMC-571","Inclusion Criteria:\n\n* Disease: Homozygous Hemoglobin S Disease, or Hemoglobin S B0\u002F+ thalassemia, or Hemoglobin SC Disease, or Beta thalassemia intermedia\u002Fmajora\n* Patients must demonstrate one or more of the following Sickle Cell Disease Complications\n* Clinically significant neurologic event (stroke) or any neurologic deficit lasting \\>24 hours that is accompanied by an infarct on cerebral MRI\n* Acute chest syndrome in the preceding two year period prior to enrollment that have failed, been non-compliant or declined hydroxyurea treatment, or prior to chronic RBC transfusion therapy, exchange transfusion or erythrocyte pheresis.\n* Recurrent painful events (at least 3 in the 2 years prior to enrollment or prior to chronic RBC transfusion therapy, exchange transfusion or erythrocyte pheresis).\n* Abnormal TCD study requiring starting on chronic transfusion therapy and\u002For exchange transfusions.\n* At least one silent infarct lesion on a MRI scan of the head. Or (directly or probably related to SCD)\n* Sickle Cell nephropathy;\n* Splenic sequestration requiring RBC transfusion;\n* Aplastic crisis requiring RBC transfusion;\n* Avascular necrosis of the hip diagnosed by MRI;\n* Two episodes or more of leg ulcerations;\n* Recurrent priapism .\n* Infant dactylitis.\n* all patients must meet disease, age, organ function and donor criteria;\n\nExclusion Criteria:\n\n* Patients who are receiving concomitant systemic anticoagulants and\u002For fibrinolytic therapies.\n* Patients with a previously known hypersensitivity reaction to defibrotide.\n* Females who are pregnant or breast-feeding are not eligible\n* Patients with documented uncontrolled infection at the time of study entry are not eligible.\n* Patients who have an unaffected HLA matched sibling donor willing to proceed to donation will not be eligible for this study.\n* Karnofsky or Lansky (age appropriate) Performance Score \\\u003C50% (hemiplegia alone secondary to a previous stroke is not an exclusion)\n* Demonstrated lack of compliance with medical care.\n* Patients with clinically significant fibrosis or cirrhosis of the liver will not be eligible.\n* Patients who have previously received a HSCT will not be eligible.\n* Patients with contraindications to the use of defibrotide",{"count":395,"type":22},[212],"This is a follow-up trial to NYMC 526 (NCT01461837) to assess the safety, efficacy and toxicity of administering Defibrotide prophylaxis for high-risk sickle cell or beta thalassemia patients undergoing a familial haploidentical or MUD allogeneic stem cell transplantation with CD34 enrichment and T-cell addback. This patient population historically has a risk of developing sinusoidal obstructive syndrome (SOS) and Defibrotide has demonstrated efficacy in treatment of SOS. The Funding Source is FDA OOPD.",[27],[623,400,624,625,626],"stem cell transplantation","haploidentical","defibrotide","matched unrelated donor",{"date":572,"type":37},{"date":629,"type":37},"2017-07-01",{"date":429,"type":22},{"name":632,"class":72},"New York Medical College",{"id":634,"slug":635,"hasResults":12,"nctId":636,"briefTitle":637,"officialTitle":637,"acronym":4,"eligibilityCriteria":638,"healthyVolunteers":12,"sex":17,"minAge":4,"maxAge":639,"enrollmentInfo":640,"targetDuration":4,"studyType":58,"phases":642,"briefSummary":643,"conditions":644,"keywords":645,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":501,"lastUpdatePostDateStruct":648,"startDateStruct":650,"completionDateStruct":652,"leadSponsor":654,"locationsCount":45},"100639208","phase-2-haploidentical-donor-hematopoietic-cell-transplant-for-sickle-cell-disease-100639208","NCT07616154","Haploidentical Donor Hematopoietic Cell Transplant for Sickle Cell Disease","Inclusion Criteria:\n\nTransplant Recipient\n\n* Age less than or equal to 22 years.\n* Patients without a suitable HLA-matched sibling donor but with a suitable single haplotype matched (≥ 3 of 6) family member donor. Potential donors do not need to undergo eligibility determination prior to the recipients enrolling on the study. As long as a potential donor is identified and willing to donate hematopoietic progenitor cells, recipients can enroll on the study.\n* Patients with SCD (any genotype) who meet any ONE of the following criteria:\n* History of an abnormal transcranial Doppler measurement defined as TCD velocity ≥200 cm\u002Fsec by the non-imaging technique (or ≥185 cm\u002Fsec by the imaging technique) measured at a minimum of two separate occasions.\n* History of cerebral infarction on brain MRI (overt stroke, or silent cerebral infarct).\n* History of two or more episodes of acute chest syndrome (ACS) in the 2-years period preceding enrollment.\n* History of two or more SCD related pain events requiring treatment with parenteral analgesics in the last 12 months.\n* History of two or more episodes of priapism (erection lasting ≥4 hours or requiring emergent medical care).\n* Administration of regular RBC transfusions (≥8 transfusions in the previous 12 months).\n* Evidence of progressive end organ damage (eg. cardiomyopathy, nephropathy, pulmonary hypertension etc) that in the opinion of the treating hematologist is not responsive to medical management and may benefit from an HCT. Such a determination must be made in writing by at least two independent hematologists and documented in the patient's electronic medical record prior to enrollment.\n\nDonor\n\n* An at least single haplotype matched (≥ 3 of 6) family member.\n* HIV negative\n* Not pregnant, as confirmed by negative serum or urine pregnancy test within 14 days prior to enrollment (if female).\n* Not breast feeding.\n* Donor should not have clinically significant hemoglobinopathy. Donors with sickle cell trait are acceptable.\n* Regarding donation eligibility, is identified as either:\n* Completed the process of donor eligibility determination as outlined in 21 CFR 1271 and agency guidance; OR.\n* Does not meet 21 CFR 1271 eligibility requirements but has a declaration of urgent medical need completed by the principal investigator or physician sub-investigator per 21 CFR 1271.\n\nExclusion Criteria:\n\nTransplant Recipient\n\n* Karnofsky or Lansky performance score \\\u003C60.\n* Pregnant, as confirmed by positive serum or urine pregnancy test within 14 days prior to enrollment (if female).\n* Breast feeding.\n* Uncontrolled bacterial, viral or fungal infections (undergoing appropriate treatment and with progression of clinical symptoms) within 1 month prior to conditioning. Patients with febrile illness or suspected minor infection should await clinical resolution prior to starting conditioning. Patients with confirmed seropositivity or positive NAAT for HIV are excluded.\n* Serum conjugated (direct) bilirubin \\>3x upper limit of normal for age as per local laboratory. Participants with hyperbilirubinemia as the result of hyperhemolysis, or a severe drop in hemoglobin post blood transfusion, are not excluded as long as it downtrends and return to acceptable limits subsequently.\n* Left ventricular shortening fraction \\\u003C25% or ejection fraction \\\u003C40% by echocardiogram.\n* Estimated creatinine clearance less than 50 mL\u002Fmin\u002F1.73m2.\n* Diffusion capacity of carbon monoxide (DLCO) \\\u003C35% (adjusted for hemoglobin) OR baseline oxygen saturation \\\u003C85% or PaO2 \\\u003C70.\n* Presence of anti-donor specific HLA antibodies unresponsive to desensitization.","22 Years",{"count":641,"type":22},45,[212],"The purpose of this study it to evaluate a reduced toxicity conditioning regimen for haploidentical donor HCT followed by a GVHD prophylaxis regimen comprising of post-transplant cyclophosphamide, sirolimus and abatacept with the goal to improve the GVHD-free rejection-free survival (GRFS) to greater than 90% after haploidentical donor HCT in children and young adults with SCD.\n\nPrimary Objective:\n\n\\- To assess the GVHD-free and rejection free survival (GRFS) after haploidentical donor HCT in children and young adults with SCD.\n\nSecondary Objectives:\n\n* Assess the overall survival (OS) and disease-free survival (DFS) after haploidentical donor HCT for SCD.\n* Estimate incidence and severity of acute and chronic GVHD after haploidentical donor HCT for SCD.\n* Assess the neutrophil and platelet engraftment kinetics after haploidentical donor HCT for SCD.",[27],[646,647],"Sickle Cell","Hematopoietic Cell Transplant",{"date":649,"type":37},"2026-07-23",{"date":651,"type":22},"2026-09",{"date":653,"type":22},"2035-09",{"name":431,"class":72}]