[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"mucopolysaccharidosis-ii\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:mucopolysaccharidosis-ii":26},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,4,0,[8,56,82,125],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":13,"acronym":14,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":17,"enrollmentInfo":18,"targetDuration":21,"studyType":22,"phases":4,"briefSummary":23,"conditions":24,"keywords":33,"overallStatus":43,"whyStopped":4,"lastUpdateSubmitDate":44,"lastUpdatePostDateStruct":45,"startDateStruct":48,"completionDateStruct":50,"leadSponsor":52,"locationsCount":55},"100486886","registry-of-patients-diagnosed-with-lysosomal-storage-diseases-100486886",false,"NCT05619900","Registry of Patients Diagnosed With Lysosomal Storage Diseases","LSD Registry","Inclusion Criteria:\n\n* Patients aged 0-64 with a diagnosis of a lysosomal storage disease\n* Pregnant patients whose fetus has a diagnosis of a lysosomal storage disease\n\nExclusion Criteria:\n\n* There are no current exclusion criteria","ALL","64 Years",{"count":19,"type":20},250,"ESTIMATED","15 Years","OBSERVATIONAL","This is an international prospective and retrospective registry of patients with Lysosomal Storage Diseases (LSDs) to understand the natural history of the disease and the outcomes of fetal therapies, with the overall goal of improving the prenatal management of patients with LSDs.",[25,26,27,28,29,30,31,32],"Mucopolysaccharidosis I","Mucopolysaccharidosis II","Mucopolysaccharidosis IV A","Mucopolysaccharidosis VI","Mucopolysaccharidosis VII","Pompe Disease Infantile-Onset","Neuronopathic Gaucher Disease","Wolman Disease",[34,35,36,37,38,39,25,26,40,28,29,30,31,32,41,42],"Lysosomal Storage Disease","LSDs","Inborn Error of Metabolism","Hurler Syndrome","Sly Syndrome","Hunter Syndrome","Mucopolysaccharidosis IVa","MPS","Mucopolysaccharidosis","RECRUITING","2026-04-06",{"date":46,"type":47},"2026-04-08","ACTUAL",{"date":49,"type":47},"2022-05-31",{"date":51,"type":20},"2050-05-31",{"name":53,"class":54},"University of California, San Francisco","OTHER",1,{"id":57,"slug":58,"hasResults":11,"nctId":59,"briefTitle":60,"officialTitle":61,"acronym":4,"eligibilityCriteria":62,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":63,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":65,"conditions":66,"keywords":4,"overallStatus":43,"whyStopped":4,"lastUpdateSubmitDate":71,"lastUpdatePostDateStruct":72,"startDateStruct":74,"completionDateStruct":76,"leadSponsor":78,"locationsCount":81},"100518911","mps-radico-cohort-radico-mps-100518911","NCT06036693","MPS (RaDiCo Cohort) (RaDiCo-MPS)","Mucopolysaccharidosis Patients in France in the Era of Specific Therapeutics","Inclusion Criteria:\n\n* Confirmed diagnosis of MPS based on clinically relevant enzyme deficiency, with abnormally elevated GAG urinary excretion and\u002For identification of pathogenic mutations.\n* Signed informed consent or parents\u002Fguardian non-opposition for deceased patients (minor or protected major)\n\nThere are no non-inclusion criteria.",{"count":64,"type":20},1000,"The goal of this observational study is to characterize the epidemiology and natural history of MPS diseases by building a retrospective and prospective collection of extensive phenotypic data from French MPS patients.",[25,26,67,68,28,29,69,70],"Mucopolysaccharidosis III","Mucopolysaccharidosis IV","Mucopolysaccharidosis IX","Multiple Sulfatase Deficiency Disease","2026-02-10",{"date":73,"type":47},"2026-02-11",{"date":75,"type":47},"2017-12-20",{"date":77,"type":20},"2026-12",{"name":79,"class":80},"Institut National de la Santé Et de la Recherche Médicale, France","OTHER_GOV",23,{"id":83,"slug":84,"hasResults":11,"nctId":85,"briefTitle":86,"officialTitle":87,"acronym":88,"eligibilityCriteria":89,"healthyVolunteers":11,"sex":16,"minAge":90,"maxAge":91,"enrollmentInfo":92,"targetDuration":4,"studyType":94,"phases":95,"briefSummary":97,"conditions":98,"keywords":110,"overallStatus":43,"whyStopped":4,"lastUpdateSubmitDate":116,"lastUpdatePostDateStruct":117,"startDateStruct":119,"completionDateStruct":121,"leadSponsor":123,"locationsCount":55},"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":93,"type":20},40,"INTERVENTIONAL",[96],"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.",[99,100,26,101,102,103,104,105,106,107,108,109],"Adrenoleukodystrophy","Batten Disease","Leukodystrophy, Globoid Cell","Leukodystrophy, Metachromatic","Neimann Pick Disease","Pelizaeus-Merzbacher Disease","Sandhoff Disease","Tay-Sachs Disease","Brain Diseases, Metabolic, Inborn","Alpha-Mannosidosis","Sanfilippo Mucopolysaccharidoses",[99,100,39,111,112,113,114,115],"Krabbe","Metachromatic Leukodystrophy","ALD","MLD","PMD","2025-09-02",{"date":118,"type":47},"2025-09-08",{"date":120,"type":4},"2014-09",{"date":122,"type":20},"2026-10",{"name":124,"class":54},"Joanne Kurtzberg, MD",{"id":126,"slug":127,"hasResults":11,"nctId":128,"briefTitle":129,"officialTitle":130,"acronym":131,"eligibilityCriteria":132,"healthyVolunteers":11,"sex":16,"minAge":133,"maxAge":134,"enrollmentInfo":135,"targetDuration":4,"studyType":94,"phases":137,"briefSummary":140,"conditions":141,"keywords":142,"overallStatus":43,"whyStopped":4,"lastUpdateSubmitDate":146,"lastUpdatePostDateStruct":147,"startDateStruct":149,"completionDateStruct":151,"leadSponsor":153,"locationsCount":156},"100467810","phase-2-a-study-to-determine-the-efficacy-and-safety-of-tividenofusp-alfa-dnl310-vs-idursulfase-in-pediatric-and-young-adult-participants-with-neuronopathic-nmps-ii-or-non-neuronopathic-mucopolysaccharidosis-type-ii-nnmps-ii-100467810","NCT05371613","A Study to Determine the Efficacy and Safety of Tividenofusp Alfa (DNL310) vs Idursulfase in Pediatric and Young Adult Participants With Neuronopathic (nMPS II) or Non-Neuronopathic Mucopolysaccharidosis Type II (nnMPS II)","A Phase 2\u002F3, Multicenter, Double-Blind, Randomized Study to Determine the Efficacy and Safety of Tividenofusp Alfa (DNL310) vs Idursulfase in Pediatric and Young Adult Participants With Neuronopathic or Non-Neuronopathic Mucopolysaccharidosis Type II","COMPASS","Key Inclusion Criteria:\n\n* Participants aged ≥2 to \\\u003C6 years (Cohort A) or ≥6 to \\\u003C26 years (Cohort B)\n* Confirmed diagnosis of MPS II (for Cohort A, nMPS II; for Cohort B, nnMPS II)\n* Have no history of treatment with enzyme replacement therapy (ERT) OR not have received continuous ERT for 4 months prior to screening OR be on maintenance ERT and have tolerated idursulfase for a minimum of 4 months prior to screening\n\nKey Exclusion Criteria:\n\n* Have a documented mutation of other genes or genetic diagnosis accounting for developmental delay\n* Previously received an iduronate 2-sulfatase (IDS) gene therapy or stem cell therapy\n* Received any CNS-targeted MPS ERT within 6 months prior to screening\n* Have a contraindication for lumbar punctures and\u002For magnetic resonance imaging (MRI)\n* Participated in any other investigational drug study or used an investigational drug within 60 days prior to screening or intend to receive another investigational drug during the study","2 Years","25 Years",{"count":136,"type":20},63,[138,139],"PHASE2","PHASE3","This is a Phase 2\u002F3, multiregional, two-arm, double-blind, randomized, active (standard-of-care)-controlled study of the efficacy and safety of tividenofusp alfa (DNL310), an investigational central nervous system (CNS)-penetrant enzyme-replacement therapy (ERT) for mucopolysaccharidosis type II (MPS II).\n\nParticipants may also qualify to enter an open-label treatment phase with DNL310 or idursulfase based on pre-specified criteria.",[26],[39,143,144,145],"MPS II","nMPS II","nnMPS II","2025-08-04",{"date":148,"type":47},"2025-08-05",{"date":150,"type":47},"2022-07-21",{"date":152,"type":20},"2027-12",{"name":154,"class":155},"Denali Therapeutics Inc.","INDUSTRY",32]