[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"sandhoff-disease\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:sandhoff-disease":28},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,4,0,[8,47,99,156],{"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":25,"conditions":26,"keywords":32,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":36,"lastUpdatePostDateStruct":37,"startDateStruct":40,"completionDateStruct":42,"leadSponsor":44,"locationsCount":4},"100649790","phase-2-safety-tolerability-pharmacokinetics-and-preliminary-efficacy-of-plx-200-in-pediatric-patients-master-protocol-100649790",false,"NCT07740512","Safety, Tolerability, Pharmacokinetics, and Preliminary Efficacy of PLX-200 in Pediatric Patients (Master Protocol)","An Open-Label, Multicenter, Phase 2 Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Preliminary Efficacy of PLX-200 in Pediatric Patients With Lysosomal Storage Disorders (SOTERIA)","Inclusion Criteria:\n\n1. Male or female participants aged 2 to 15 years at the time of informed consent. Any deviations must be approved in advance by the Medical Monitor and Sponsor.\n2. Genetically confirmed diagnosis of one of the four LSDs included in this study: CLN2, CLN3, Sandhoff disease or Krabbe disease. Diagnosis must be supported by all of the following:\n\n   * Age of symptom onset consistent with the targeted subtype,\n   * Relevant clinical manifestations, and\n   * Documented genotype at Screening or prior to enrollment. If no genotype is available at Screening, blood samples will be collected for genetic analysis as part of study procedures.\n3. Written informed consent must be obtained from the participant's parent(s) or legal guardian(s). Assent must also be obtained from the participant, when applicable, in accordance with local regulations and the participant's developmental status.\n4. Parent(s) or legal guardian(s) must demonstrate willingness and ability to comply with the protocol, including adherence to all required baseline, treatment, and follow-up assessments.\n\nExclusion Criteria:\n\n1. The participant has a known inherited neurologic disease other than the targeted lysosomal storage disorder subtype.\n2. The participant has a neurological illness unrelated to the study indication that may independently cause cognitive or motor decline.\n3. The participant requires ventilatory support, except for noninvasive support during sleep (e.g., Continuous Positive Airway Pressure \\[CPAP\\], Bilevel Positive Airway Pressure \\[BiPAP\\]).\n4. The participant has moderate or severe hepatic dysfunction, defined as alanine aminotransferase (ALT), aspartate aminotransferase (AST), or total bilirubin greater than 3 times the upper limit of normal (ULN), except in cases of Gilbert syndrome. The participant has a diagnosis of primary biliary cirrhosis.\n5. The participant has clinically significant anemia\n6. The participant has a body surface area (BSA)-adjusted eGFR \\\u003C90 mL\u002Fmin\u002F1.73m2 at Screening or baseline.\n7. The participant has a history or current diagnosis of gallbladder disease (e.g., cholelithiasis or cholecystitis).\n8. The participant has a known hypersensitivity to gemfibrozil or any component of the study drug.\n9. The participant is currently using, or is expected to require during the study, any of the following medications which are contraindicated with PLX-200:\n\n   * HMG-CoA reductase inhibitors\n   * Repaglinide (Prandin®)\n   * Dasabuvir (Exviera®)\n   * Selexipag (Uptravi®)\n   * Pioglitazone (Actos®)\n   * Fibrate medication (e.g., gemfibrozil, fenofibrate). Participants must not have received gemfibrozil or other fibrates for at least 2 weeks or five half-lives, whichever is shorter, before Visit 2 (Day 1). They may not receive gemfibrozil or other fibrates during the study\n10. Participants receiving Zavesca® (miglustat) or any other prohibited therapies must be willing to discontinue these therapies, complete a washout period (2 weeks or five half-lives, whichever is shorter) prior to Visit 2 (Day 1), and refrain from receiving them while they are participating in the study. If participants were previously on Brineura®, they must complete a 3-month washout period prior to Visit 2 (Day 1) and refrain from receiving it while they are participating in the study.\n11. The participant has a medical condition or personal circumstance that, in the opinion of the Investigator or Sponsor, could compromise safety, protocol compliance, or the interpretability of study data.\n12. The participant has received any investigational product or medical device within 30 days prior to the baseline visit that could confound study results or pose additional risk. All participants who have previously received stem cell or gene therapy are excluded regardless of timing.\n13. The participant receives systemic anticoagulant therapy (e.g., warfarin) and is unable or unwilling to comply with increased frequency of INR monitoring during study participation. Note: Participants may be eligible if receiving anticoagulants (e.g., warfarin) provided that INR can be monitored with increased frequency and dose adjustments are implemented to maintain therapeutic range and avoid bleeding complications.\n14. The participant has uncontrolled seizures, defined as ≥4 generalized tonic-clonic seizures per month or a recent episode of status epilepticus.\n15. The participant has severe central nervous system abnormalities (e.g., hydrocephalus, intracranial shunt).\n16. The participant has a history of clinically significant arrhythmia or QTc prolongation at Screening or baseline.\n17. The participant is pregnant or breastfeeding or is a female showing signs of pubertal development (e.g., Tanner Stage ≥2) who is unable or unwilling to undergo pregnancy testing at Screening or baseline. All such determinations must involve consultation with the Medical Monitor and follow the procedures outlined in each ISA.","ALL","2 Years","15 Years",{"count":20,"type":21},24,"ESTIMATED","INTERVENTIONAL",[24],"PHASE2","The purpose of this study is to evaluate the safety, tolerability and clinical activity of PLX-200 in pediatric patients with lysosomal storage disorders.",[27,28,29,30,31],"Lysosomal Storage Disorders","Sandhoff Disease","Krabbe Disease","CLN2","CLN3",[31,30,29,33,34],"Pediatric","LSD","NOT_YET_RECRUITING","2026-07-28",{"date":38,"type":39},"2026-07-31","ACTUAL",{"date":41,"type":21},"2026-12-01",{"date":43,"type":21},"2029-02-01",{"name":45,"class":46},"Polaryx Therapeutics, Inc.","INDUSTRY",{"id":48,"slug":49,"hasResults":11,"nctId":50,"briefTitle":51,"officialTitle":51,"acronym":4,"eligibilityCriteria":52,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":53,"targetDuration":4,"studyType":55,"phases":4,"briefSummary":56,"conditions":57,"keywords":62,"overallStatus":87,"whyStopped":4,"lastUpdateSubmitDate":88,"lastUpdatePostDateStruct":89,"startDateStruct":91,"completionDateStruct":93,"leadSponsor":95,"locationsCount":98},"100107860","a-natural-history-study-of-the-gangliosidoses-100107860","NCT00668187","A Natural History Study of the Gangliosidoses","Inclusion Criteria:\n\n1. Subjects must have a documented gangliosidosis disease.\n2. Subjects must be able to complete appropriate neuropsychological and neurobehavioral assessments.\n3. Late-onset gangliosidosis subjects must be able to tolerate a head MRI.\n\nExclusion Criteria:\n\n1\\. There are no exclusion criteria, beyond a desire not to participate.",{"count":54,"type":21},52,"OBSERVATIONAL","Hypothesis: To characterize and describe disease progression and heterogeneity of the gangliosidosis diseases.\n\nThis research study seeks to develop a quantitative method to delineate disease progression for the gangliosidosis diseases (Tay-Sachs disease, Sandhoff disease, and GM1 gangliosidosis) in order to better understand the natural history and heterogeneity of these diseases. Such a quantitative method will also be essential for evaluating any treatments that may become available in the future, such as gene therapy. The data from this study will be necessary to provide end-points for future therapies, guide medical decisions about treatment, provide objective measurement of treatment outcomes, and accurately inform parents regarding potential outcomes.",[58,28,59,60,61],"Tay-Sachs Disease","Late Onset Tay-Sachs Disease","GM1 Gangliosidosis","GM2 Gangliosidosis",[63,64,65,66,67,68,69,70,71,72,73,74,75,76,77,78,79,80,81,82,83,84,85,86],"Tay-Sachs disease","Sandhoff disease","Late Onset Tay-Sachs disease","LOTS","hexosaminidase A deficiency","hexosaminidase A and B deficiency","infantile Tay-Sachs disease","adult-onset Tay-Sachs disease","prospective","natural history","GM1 gangliosidosis","gangliosidoses","β-galactosidase","β-galactosidase deficiency","hexosaminidase","hexosaminidase deficiency","Tay-Sachs","Sandhoff","juvenile Tay-Sachs","juvenile Tay-Sachs disease","late onset Tay-Sachs","juvenile Sandhoff","juvenile Sandhoff disease","GM2 gangliosidosis","RECRUITING","2026-03-02",{"date":90,"type":39},"2026-03-04",{"date":92,"type":39},"2010-12",{"date":94,"type":21},"2027-03-01",{"name":96,"class":97},"University of Minnesota","OTHER",1,{"id":100,"slug":101,"hasResults":11,"nctId":102,"briefTitle":103,"officialTitle":103,"acronym":4,"eligibilityCriteria":104,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":105,"targetDuration":4,"studyType":55,"phases":4,"briefSummary":107,"conditions":108,"keywords":133,"overallStatus":87,"whyStopped":4,"lastUpdateSubmitDate":147,"lastUpdatePostDateStruct":148,"startDateStruct":150,"completionDateStruct":152,"leadSponsor":154,"locationsCount":98},"100311346","longitudinal-study-of-neurodegenerative-disorders-100311346","NCT03333200","Longitudinal Study of Neurodegenerative Disorders","Inclusion Criteria:\n\n* Any patient with a genetic neurodegenerative disorder\n\nExclusion Criteria:\n\n* none",{"count":106,"type":21},1500,"The purpose of this study is to understand the course of rare genetic disorders that affect the brain. This data is being analyzed to gain a better understanding of the progression of the rare neurodegenerative disorders and the effects of interventions.",[109,29,110,111,112,113,114,115,116,58,117,118,119,28,120,121,122,123,124,125,126,127,128,129,130,131,132],"MLD","ALD","MPS I","MPS II","MPS III","Vanishing White Matter Disease","GM3 Gangliosidosis","PKAN","NP Deficiency","Osteopetrosis","Alpha-Mannosidosis","Niemann-Pick Diseases","MPS IV","Gaucher Disease","GAN","GM1 Gangliosidoses","Morquio Disease","S-Adenosylhomocysteine Hydrolase Deficiency","Batten Disease","Pelizaeus-Merzbacher Disease","Leukodystrophy","Lysosomal Storage Diseases","Purine Nucleoside Phosphorylase Deficiency","Multiple Sulfatase Deficiency Disease",[33,134,135,136,137,138,139,140,141,142,143,144,145,146],"Rare","Neurodegenerative","Genetic","Neurodevelopment","Brain","MRI","Biorepository","NDRD","Longitudinal","Cognitive","Motor","Language","Adaptive behavior","2026-02-04",{"date":149,"type":39},"2026-02-09",{"date":151,"type":39},"2012-01-11",{"date":153,"type":21},"2035-01",{"name":155,"class":97},"University of Pittsburgh",{"id":157,"slug":158,"hasResults":11,"nctId":159,"briefTitle":160,"officialTitle":161,"acronym":162,"eligibilityCriteria":163,"healthyVolunteers":11,"sex":16,"minAge":164,"maxAge":165,"enrollmentInfo":166,"targetDuration":4,"studyType":22,"phases":168,"briefSummary":170,"conditions":171,"keywords":179,"overallStatus":87,"whyStopped":4,"lastUpdateSubmitDate":184,"lastUpdatePostDateStruct":185,"startDateStruct":187,"completionDateStruct":189,"leadSponsor":191,"locationsCount":98},"100228697","phase-1-ucb-transplant-of-inherited-metabolic-diseases-with-administration-of-intrathecal-ucb-derived-oligodendrocyte-like-cells-100228697","NCT02254863","UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells","Augmentation of Umbilical Cord Blood Transplantation for Inherited Metabolic Diseases With Intrathecal Administration of Human Umbilical Cord Blood-Derived Oligodendrocyte-Like Cells","DUOC-01","Inclusion Criteria:\n\n1. Patients must be age ≥1 week to ≤21 years.\n2. Patients must have one of the following inherited metabolic diseases detected by enzyme or mutation analysis, and confirmed by repeat testing on a separately obtained sample:\n\n   Adrenoleukodystrophy (ALD) Batten Disease Hunter Syndrome (MPS II) Krabbe disease (Globoid Leukodystrophy) Metachromatic Leukodystrophy (MLD) Niemann Pick disease type A or B Pelizaeus-Merzbacher disease (PMD) Sandhoff disease Tay Sachs disease. Alpha Mannosidosis Sanfilippo (MPS III)\n3. Patients must have neurologic evidence of their disease, either clinically or via neuroimaging or neurophysiological testing. Examples of evidence of neurologic involvement include, but are not limited to the following:\n\n   * Abnormal EEG, Brainstem Auditory Evoked Response (BAER), and\u002For Visual Evoked Potentials (VEP).\n   * Abnormal brain MRI, ie. increased Loes score (measure of white matter damage, demyelination, and brain atrophy) and\u002For abnormal corticospinal tracts as assessed by MRI with diffusion tensor imaging (DTI).\n   * Three or more of the early clinical markers: problems sleeping, increased activity, behavior difficulties, seizure-like activity, chewing behavior, inappropriate bladder training, inappropriate bowel training.\n4. Patients must have adequate organ function as measured by:\n\n   * Renal: Serum creatinine ≤ 2.0 mg\u002Fdl\n   * Hepatic: Hepatic transaminases (ALT\u002FAST) ≤ 5 x normal, bilirubin ≤ 2.0 mg\u002Fdl (except in patients with Gilbert's disease or newborns with physiological or breast milk associated jaundice).\n   * Cardiac: Normal cardiac function by echocardiogram or radionuclide scan (shortening fraction or ejection fraction\n\n     * 80% of normal value for age). Patients with acquired or congenital cardiomyopathy may receive melphalan as a substitute for cyclophosphamide.\n   * Pulmonary: Pulmonary function tests demonstrating FVC, FEV1, and DLCO ≥ 60% of predicted in patients who can complete the testing. If patient cannot perform PFT's, an O2 sat must be \\>90% on room air.\n5. Patients must have an available, suitably matched, banked UCB unit for transplant.\n6. Patients must have a performance status as follows: Lansky ≥ 40%, or Karnofsky ≥ 40%\n7. Patients must have a life expectancy of ≥ 6 months.\n\nExclusion Criteria:\n\n1. Prior organ, tissue, or stem cell transplant within 3 years of study entry.\n2. Prior participation in any gene or regenerative cell therapy study.\n3. Inability to have an MRI scan or lumbar puncture.\n4. Intractable seizures.\n5. Chronic aspiration.\n6. Bleeding disorder.\n7. Evidence of HIV infection or HIV positive serology.\n8. Uncontrolled bacterial, viral, or fungal infection at the time of pre-UCBT cytoreduction.\n9. Inability to obtain patient's, parent's or legal guardian's consent.\n10. Requirement of ventilatory support.\n11. Pregnant or breastfeeding.\n12. Active concurrent malignancy, or receiving concurrent radiotherapy, immunosuppressive medications, or cytotoxic chemotherapy","1 Week","22 Years",{"count":167,"type":21},40,[169],"PHASE1","The primary objective of the study is to determine the safety and feasibility of intrathecal administration of DUOC-01 as an adjunctive therapy in patients with inborn errors of metabolism who have evidence of early demyelinating disease in the central nervous system (CNS) who are undergoing standard treatment with unrelated umbilical cord blood transplantation (UCBT). The secondary objective of the study is to describe the efficacy of UCBT with intrathecal administration of DUOC-01 in these patients.",[172,127,173,174,175,176,128,28,58,177,119,178],"Adrenoleukodystrophy","Mucopolysaccharidosis II","Leukodystrophy, Globoid Cell","Leukodystrophy, Metachromatic","Neimann Pick Disease","Brain Diseases, Metabolic, Inborn","Sanfilippo Mucopolysaccharidoses",[172,127,180,181,182,110,109,183],"Hunter Syndrome","Krabbe","Metachromatic Leukodystrophy","PMD","2025-09-02",{"date":186,"type":39},"2025-09-08",{"date":188,"type":4},"2014-09",{"date":190,"type":21},"2026-10",{"name":192,"class":97},"Joanne Kurtzberg, MD"]