[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"alpha-mannosidosis\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:alpha-mannosidosis":153},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,4,0,[8,77,115,139],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":13,"acronym":4,"eligibilityCriteria":14,"healthyVolunteers":11,"sex":15,"minAge":4,"maxAge":4,"enrollmentInfo":16,"targetDuration":4,"studyType":19,"phases":4,"briefSummary":20,"conditions":21,"keywords":49,"overallStatus":64,"whyStopped":4,"lastUpdateSubmitDate":65,"lastUpdatePostDateStruct":66,"startDateStruct":69,"completionDateStruct":71,"leadSponsor":73,"locationsCount":76},"100311346","longitudinal-study-of-neurodegenerative-disorders-100311346",false,"NCT03333200","Longitudinal Study of Neurodegenerative Disorders","Inclusion Criteria:\n\n* Any patient with a genetic neurodegenerative disorder\n\nExclusion Criteria:\n\n* none","ALL",{"count":17,"type":18},1500,"ESTIMATED","OBSERVATIONAL","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.",[22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41,42,43,44,45,46,47,48],"MLD","Krabbe Disease","ALD","MPS I","MPS II","MPS III","Vanishing White Matter Disease","GM3 Gangliosidosis","PKAN","Tay-Sachs Disease","NP Deficiency","Osteopetrosis","Alpha-Mannosidosis","Sandhoff Disease","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",[50,51,52,53,54,55,56,57,58,59,60,61,62,63],"Pediatric","Rare","Neurodegenerative","Genetic","Neurodevelopment","Brain","MRI","Biorepository","NDRD","Longitudinal","Cognitive","Motor","Language","Adaptive behavior","RECRUITING","2026-02-04",{"date":67,"type":68},"2026-02-09","ACTUAL",{"date":70,"type":68},"2012-01-11",{"date":72,"type":18},"2035-01",{"name":74,"class":75},"University of Pittsburgh","OTHER",1,{"id":78,"slug":79,"hasResults":11,"nctId":80,"briefTitle":81,"officialTitle":82,"acronym":83,"eligibilityCriteria":84,"healthyVolunteers":11,"sex":15,"minAge":85,"maxAge":86,"enrollmentInfo":87,"targetDuration":4,"studyType":89,"phases":90,"briefSummary":92,"conditions":93,"keywords":101,"overallStatus":64,"whyStopped":4,"lastUpdateSubmitDate":106,"lastUpdatePostDateStruct":107,"startDateStruct":109,"completionDateStruct":111,"leadSponsor":113,"locationsCount":76},"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":88,"type":18},40,"INTERVENTIONAL",[91],"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.",[94,43,95,96,97,98,44,35,31,99,34,100],"Adrenoleukodystrophy","Mucopolysaccharidosis II","Leukodystrophy, Globoid Cell","Leukodystrophy, Metachromatic","Neimann Pick Disease","Brain Diseases, Metabolic, Inborn","Sanfilippo Mucopolysaccharidoses",[94,43,102,103,104,24,22,105],"Hunter Syndrome","Krabbe","Metachromatic Leukodystrophy","PMD","2025-09-02",{"date":108,"type":68},"2025-09-08",{"date":110,"type":4},"2014-09",{"date":112,"type":18},"2026-10",{"name":114,"class":75},"Joanne Kurtzberg, MD",{"id":116,"slug":117,"hasResults":11,"nctId":118,"briefTitle":119,"officialTitle":120,"acronym":121,"eligibilityCriteria":122,"healthyVolunteers":11,"sex":15,"minAge":4,"maxAge":123,"enrollmentInfo":124,"targetDuration":4,"studyType":19,"phases":4,"briefSummary":126,"conditions":127,"keywords":4,"overallStatus":64,"whyStopped":4,"lastUpdateSubmitDate":128,"lastUpdatePostDateStruct":129,"startDateStruct":131,"completionDateStruct":133,"leadSponsor":135,"locationsCount":138},"100530263","analysis-of-velmanase-alfa-lamzedes-effects-in-the-body-of-children-with-alpha-mannosidosis-under-the-age-3-100530263","NCT06184503","Analysis of Velmanase Alfa (Lamzede®)'s Effects in the Body of Children With Alpha-Mannosidosis Under the Age 3","A Real-world Analysis of Pharmacodynamic Response to Velmanase Alfa (Lamzede®) Treatment in Patients With Alpha-Mannosidosis Less Than 3 Years of Age","LAMPO(0-3)","Inclusion Criteria:\n\n* Subjects with the provision of informed consent from their legal guardians (LAR)\n* Have a confirmed diagnosis of alpha mannosidosis\n* Have initiated treatment with velmanase alfa between birth to at least six weeks before turning 3 years of age\n* Have information on the disease marker GlcNAc(Man)2 obtained:\n\nbefore velmanase treatment initiation (ideally max 6 month before), and at least one post-treatment sample, collected following at least six weeks of treatment.\n\n\\- Participants treated with Lamzede, 1 mg\u002Fkg body weight, via weekly intravenous infusions.\n\nExclusion Criteria:\n\nParticipants who have undergone prior hematopoietic stem cell transplantation (HSCT) or other investigational therapies for treating alfa mannosidosis (supportive treatments acceptable).","3 Years",{"count":125,"type":18},5,"The goal of this observational study is to learn the effects of the drug velmanase alfa (Lamzede®) in the bodies of children under the age of 3 with Alpha-Mannosidosis.\n\nThe main questions it aims to answer are:\n\n* study the effect of velmanase alfa on a marker of the disease called GlcNAc(Man)2 after one year of therapy\n* explore how the child's body reacts to velmanase alfa during the therapy The parents or legal guardians of participants will be asked to provide the results of analyses performed in the routine clinical setting related to the participant's general health and the administration of velmanase alfa.\n\nAdditional data will be extracted from other observational sponsored studies\u002Fregistries, compassionate use programs, investigator-initiated studies (IIS), and published case reports (presented in the literature) if existing.",[34],"2025-05-15",{"date":130,"type":68},"2025-05-16",{"date":132,"type":68},"2025-02-19",{"date":134,"type":18},"2029-09",{"name":136,"class":137},"Chiesi Farmaceutici S.p.A.","INDUSTRY",2,{"id":140,"slug":141,"hasResults":11,"nctId":142,"briefTitle":143,"officialTitle":4,"acronym":4,"eligibilityCriteria":144,"healthyVolunteers":11,"sex":4,"minAge":4,"maxAge":4,"enrollmentInfo":4,"targetDuration":4,"studyType":145,"phases":4,"briefSummary":146,"conditions":147,"keywords":4,"overallStatus":148,"whyStopped":4,"lastUpdateSubmitDate":149,"lastUpdatePostDateStruct":150,"startDateStruct":4,"completionDateStruct":4,"leadSponsor":152,"locationsCount":4},"100436131","expanded-access-to-velmanase-alfa-100436131","NCT04959240","Expanded Access to Velmanase Alfa","Inclusion Criteria:\n\n\\-\n\nExclusion Criteria:\n\n\\-","EXPANDED_ACCESS","Individual patient expanded access requests may be considered for patients who have no other treatment options.",[34],"AVAILABLE","2023-09-22",{"date":151,"type":68},"2023-09-25",{"name":136,"class":137},"Alpha Mannosidosis"]