[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"whim\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:whim":28},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,2,0,[8,49],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":18,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":23,"briefSummary":26,"conditions":27,"keywords":33,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":37,"lastUpdatePostDateStruct":38,"startDateStruct":41,"completionDateStruct":43,"leadSponsor":45,"locationsCount":48},"100652704","phase-1-base-edited-hematopoietic-stemprogenitor-cell-gene-therapy-for-treatment-of-cxcr4-whim-100652704",false,"NCT07775313","Base-Edited Hematopoietic Stem\u002FProgenitor Cell Gene Therapy for Treatment of CXCR4-WHIM","Phase 1\u002F2 Base-Edited Hematopoietic Stem\u002FProgenitor Cell Gene Therapy for Treatment of CXCR4-WHIM","* INCLUSION CRITERIA:\n\nIn order to be eligible to participate in this study, an individual must meet all of the following criteria:\n\n* Aged \\>= 3 years and weighing \\>=15 kg.\n* Confirmed CXCR c.1000C\\>T, pR334X mutation.\n* Ability to undergo apheresis for stem cell collection.\n* Medical lab data (historical) of neutropenia, or B cell dysfunction (low or absent IgG levels, or on IV gamma globulin.\n* Expected survival of at least 120 days.\n* Must be willing to have blood and tissue samples stored.\n* Participants of reproductive potential must agree to consistently use effective contraception from start of busulfan conditioning through at least one-year post-treatment. Acceptable forms of contraception are:\n\n  * Hormonal contraception in continuously effective use.\n  * Male or female condom with spermicide as indicated.\n  * Diaphragm or cervical cap in consistent and effective pattern of use with a spermicide.\n  * Intrauterine device in-situ\n\nEXCLUSION CRITERIA:\n\nAn individual who meets any of the following criteria will be excluded from participation in this study:\n\n* Acute onset infection as indicated by symptoms such as persistent fevers, or imaging (new pneumonia on CT for example), isolated pathogen and requiring medical intervention.\n* Severe liver dysfunction with transaminases \\> 6 fold upper limit will be excluded until approval by hepatology consult who will provide mitigating plans for liver protection.\n* Renal dysfunction-serum creatinine \\>3.0 x ULN.\n* Coagulation dysfunction- Prothrombin INR or Partial thromboplastin time \\>2 x ULN (patients on controlled anticoagulation agents will not be excluded for therapeutic levels).\n* Known hypersensitivity to busulfan or any component of the product.\n* Contraindications for administration of busulfan, including but not limited to: hypersensitivity, chronic lymphocytic leukemia, acute leukemia in blastic crisis, pregnancy, or lactation.\n* Childhood malignancy (occurring before 18 years of age) in the participant or a first degree relative, or previously diagnosed known genotype of the participant conferring a predisposition to cancer unless approved by the with appropriate consultants and approved by the study PI (no DNA or other testing for cancer predisposition genes will be performed as part of the screen for this protocol).\n* Any other condition that, in the opinion of the investigator, may compromise the safety or compliance of the participant, or would preclude the participant from successful study completion.","ALL","3 Years","75 Years",{"count":20,"type":21},10,"ESTIMATED","INTERVENTIONAL",[24,25],"PHASE1","PHASE2","Background:\n\nWarts, hypogammaglobulinemia, infections and myelokathexis syndrome (WHIMs) is a rare disorder that affects the immune system. People with WHIMs can have severe infections all over their body. WHIMs is caused by a mutation in the CXCR4 gene. Treatment with drugs can help control the infections but does not cure the disorder. Researchers want to try a treatment where they collect stem cells from a person with WHIMS, use base-editing to replace the bad gene with a healthy version, and return the new cells to the person. This could cure WHIMs.\n\nObjective:\n\nTo test a treatment using base-edited stem cells in people with WHIMs.\n\nEligibility:\n\nPeople aged 3 years and older with WHIMs.\n\nDesign:\n\nThe study has 4 stages.\n\nStage 1: Screening. Participants will be screened at 1 or more visits. They will have a physical exam with blood tests. A sample of tissue and fluid (biopsy) will be taken from the bone marrow in the hip.\n\nStage 2: Apheresis. Blood will be taken from the body through a needle; the blood will pass through a machine that separates out the stem cells. The remaining blood will be returned to the body through a different needle. The collected stem cells will undergo gene editing.\n\nStage 3: Treatment. Participants will stay in the hospital for about 4 weeks. They will receive 3 drugs to prepare their body for the procedure. Then the edited stem cells will be returned to their bloodstream. They will stay in the hospital until they recover.\n\nStage 4: Follow-up. Participants will have 8 follow-up visits over 5 years. Long-term visits will continue for 15 years.",[28,29,30,31,32],"WHIM","Warts","Hypogammaglobulinemia","Immunodeficiency","Myelokathexis",[34,35],"Gene Editing","base editing","NOT_YET_RECRUITING","2026-08-20",{"date":39,"type":40},"2026-08-21","ACTUAL",{"date":42,"type":21},"2026-08-26",{"date":44,"type":21},"2033-12-31",{"name":46,"class":47},"National Institute of Allergy and Infectious Diseases (NIAID)","NIH",1,{"id":50,"slug":51,"hasResults":11,"nctId":52,"briefTitle":53,"officialTitle":54,"acronym":55,"eligibilityCriteria":56,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":57,"targetDuration":59,"studyType":60,"phases":4,"briefSummary":61,"conditions":62,"keywords":89,"overallStatus":100,"whyStopped":4,"lastUpdateSubmitDate":101,"lastUpdatePostDateStruct":102,"startDateStruct":104,"completionDateStruct":106,"leadSponsor":108,"locationsCount":48},"100592939","shwachman-diamond-syndrome-global-patient-survey-and-partnering-platform-100592939","NCT06999954","Shwachman-Diamond Syndrome Global Patient Survey and Partnering Platform","The Shwachman-Diamond Syndrome Global Patient Survey and Partnering Platform Program (SDS-GPS Program)","SDS-GPS","Inclusion Criteria:\n\nThe Program invites patients of all ages who have a confirmed diagnosis of the below, using established diagnostic guidelines, plus their parents\u002Fcaregivers.\n\n* Patients with a confirmed Shwachman-Diamond Syndrome (SDS) diagnosis, including a genetic or clinical diagnosis. The initial focus will be on patients with a genetic diagnosis of SDS based on biallelic mutations in SBDS or EFL1.\n* Patients with a confirmed diagnosis of an SDS-like syndrome (e.g. due to mutations in DNAJC21, SRP54, or other genes that may be associated with an SDS-like syndrome in the future).\n* Patients with other heritable hematological malignancy disorders (such as RUNX1-FPD, Fanconi Anemia) and\u002For congenital neutropenias (such as ELANE neutropenia) are also eligible for inclusion.\n* Caregivers, parents, and close relatives of all patients above, including of patients alive or deceased.\n\nExclusion Criteria:\n\n● People who do not meet the above criteria.",{"count":58,"type":21},8000,"120 Years","OBSERVATIONAL","The Shwachman-Diamond Syndrome Global Patient Survey and Collaboration Program (SDS-GPS) is an opportunity for patients and their families - from anywhere in the world - to share their experience living with SDS via a safe, secure, and convenient online platform, to\n\n* expand the understanding of SDS\n* improve the lives of people with SDS, and\n* accelerate the development of new therapies and cures for SDS.\n\nBy joining, participants will receive early access to relevant information about new clinical trials and other research opportunities (such as clinical registries) based on their profile, accelerating research and increasing clinical trial impact and recruitment success.\n\nThe platform, consent forms, and surveys are available in five languages: English, Spanish, French, German, and Italian. More languages to come.",[63,64,65,66,67,68,69,70,28,71,72,73,74,75,76,77,78,79,80,81,82,83,84,85,86,87,88],"Shwachman-Diamond Syndrome","SDS","IBMF","Congenital Neutropenia","Heme Malignancy","Shwachman Syndrome","Inherited Bone Marrow Failure","Exocrine Pancreatic Insufficiency","ELANE","SBDS Gene Mutation","EFL1 Gene Mutation","DNAJC21 Gene Mutation","SRP54 Gene Mutation","Inherited Cancer Syndrome","Inherited Cancer-Predisposing Syndrome","Neutropenia, Severe Chronic","Neutropenia Other","Neutropenia Chronic Benign","Ribosome Alteration","Ribosomopathy","Immune Deficiency","Inherited BMF Syndrome","Inherited Immunodeficiency Diseases","Cognitive Delay, Mild","Myelodysplastic Syndromes","Pancytopenia",[63,90,68,64,65,69,66,83,91,92,28,71,93,94,95,96,97,98,99],"Shwachman Diamond Syndrome","SDS-like syndrome","genetic cancer predisposition","SBDS","EFL1","SRP54","DNAJC21","severe chronic neutropenia","exocrine pancreatic insufficiency","ribosomopathy","RECRUITING","2025-05-23",{"date":103,"type":40},"2025-05-31",{"date":105,"type":40},"2024-02-07",{"date":107,"type":21},"2088-12",{"name":109,"class":110},"Shwachman-Diamond Syndrome Alliance Inc","OTHER"]