[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"pelizaeus-merzbacher-disease\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:pelizaeus-merzbacher-disease":25},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,5,0,[8,41,104,128,217],{"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":4,"briefSummary":23,"conditions":24,"keywords":26,"overallStatus":28,"whyStopped":4,"lastUpdateSubmitDate":29,"lastUpdatePostDateStruct":30,"startDateStruct":33,"completionDateStruct":35,"leadSponsor":37,"locationsCount":40},"100489959","rocket-study-a-study-to-characterize-biomarkers-and-disease-progression-in-participants-with-pelizaeus-merzbacher-disease-100489959",false,"NCT05659901","Rocket Study: A Study to Characterize Biomarkers and Disease Progression in Participants With Pelizaeus-Merzbacher Disease","Integrated Prospective and Retrospective Observational Study to Characterize Biomarkers and Disease Progression in Patients With Pelizaeus-Merzbacher Disease","Inclusion Criteria:\n\n1. Participant has a parent or caregiver capable of providing informed consent (signed and dated) and able to attend all scheduled study visits and provide feedback regarding the participant's symptoms and performance as described in the protocol and be able to comply with all study requirements\n2. Participant has a diagnosis of Pelizaeus-Merzbacher Disease with genetic confirmation of PLP1 duplication\n3. Male, 6 months-17 years old, inclusive, at the time of informed consent and phenotype consistent with classic PMD\n4. No contraindications for lumbar punctures (LPs), blood draws, neuroimaging, sedation (if necessary) or other study procedures\n\nExclusion Criteria:\n\n1. Clinically significant abnormalities in medical history or physical examination\n2. \\> 2 copies of the PLP1 gene\n3. Have any other conditions, which, in the opinion of the investigator would make the participant unsuitable for inclusion, or could interfere with the participant taking part in or completing the study","MALE","6 Months","17 Years",{"count":20,"type":21},32,"ESTIMATED","OBSERVATIONAL","The purpose of the study is to prospectively assess longitudinal changes in proteolipid protein 1 (PLP1) protein, disease-related biomarkers in cerebral spinal fluid (CSF) and blood, neuroimaging parameters relevant to Pelizaeus-Merzbacher disease (PMD) and longitudinal changes in performance on clinical, participant, and caregiver-reported outcome assessments to inform the development of therapies for PMD.",[25],"Pelizaeus-Merzbacher Disease",[27],"PMD","RECRUITING","2026-04-16",{"date":31,"type":32},"2026-04-17","ACTUAL",{"date":34,"type":32},"2022-10-03",{"date":36,"type":21},"2029-03",{"name":38,"class":39},"Ionis Pharmaceuticals, Inc.","INDUSTRY",9,{"id":42,"slug":43,"hasResults":11,"nctId":44,"briefTitle":45,"officialTitle":45,"acronym":4,"eligibilityCriteria":46,"healthyVolunteers":11,"sex":47,"minAge":4,"maxAge":4,"enrollmentInfo":48,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":50,"conditions":51,"keywords":78,"overallStatus":28,"whyStopped":4,"lastUpdateSubmitDate":93,"lastUpdatePostDateStruct":94,"startDateStruct":96,"completionDateStruct":98,"leadSponsor":100,"locationsCount":103},"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","ALL",{"count":49,"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.",[52,53,54,55,56,57,58,59,60,61,62,63,64,65,66,67,68,69,70,71,72,73,25,74,75,76,77],"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","Leukodystrophy","Lysosomal Storage Diseases","Purine Nucleoside Phosphorylase Deficiency","Multiple Sulfatase Deficiency Disease",[79,80,81,82,83,84,85,86,87,88,89,90,91,92],"Pediatric","Rare","Neurodegenerative","Genetic","Neurodevelopment","Brain","MRI","Biorepository","NDRD","Longitudinal","Cognitive","Motor","Language","Adaptive behavior","2026-02-04",{"date":95,"type":32},"2026-02-09",{"date":97,"type":32},"2012-01-11",{"date":99,"type":21},"2035-01",{"name":101,"class":102},"University of Pittsburgh","OTHER",1,{"id":105,"slug":106,"hasResults":11,"nctId":107,"briefTitle":108,"officialTitle":109,"acronym":4,"eligibilityCriteria":110,"healthyVolunteers":11,"sex":16,"minAge":111,"maxAge":18,"enrollmentInfo":112,"targetDuration":4,"studyType":114,"phases":115,"briefSummary":117,"conditions":118,"keywords":4,"overallStatus":28,"whyStopped":4,"lastUpdateSubmitDate":119,"lastUpdatePostDateStruct":120,"startDateStruct":122,"completionDateStruct":124,"leadSponsor":126,"locationsCount":127},"100527665","phase-1-orbit-study-a-study-to-evaluate-the-safety-pharmacokinetics-and-pharmacodynamics-of-intrathecally-administered-ion356-in-participants-with-pelizaeus-merzbacher-disease-pmd-100527665","NCT06150716","Orbit Study: A Study to Evaluate the Safety, Pharmacokinetics, and Pharmacodynamics of Intrathecally Administered ION356 in Participants With Pelizaeus Merzbacher Disease (PMD)","A Phase 1b Study to Evaluate the Safety, Pharmacokinetics and Pharmacodynamics of Intrathecally Administered ION356 in Patients With Pelizaeus Merzbacher Disease","Key Inclusion Criteria\n\n1. Participant's parent or legally accepted representative can provide informed consent, attend all scheduled study visits, provide feedback regarding the participant's symptoms, and can comply with all study requirements.\n2. Diagnosis of PMD with genetic confirmation of PLP1 gene duplication.\n3. Clinical phenotype and brain imaging consistent with a diagnosis of PMD.\n4. Male between the ages of 2 and 17 years, inclusive, at the time of informed consent.\n5. Able and willing to meet all study requirements (in the opinion of the Investigator), including travel to Study Center, procedures, measurements, and visits.\n\nExclusion Criteria\n\n1. Clinically significant abnormalities in medical history, laboratory tests or physical examination.\n2. Unwillingness to comply with study procedures, including follow-up, as specified by this protocol, or unwillingness to cooperate fully with the Investigator.\n3. Any contraindication or unwillingness to undergo magnetic resonance imaging (MRI).\n4. Treatment with another investigational drug, biological agent, or device within 1 month of Screening, or 5 half-lives of the investigational agent, whichever is longer.\n5. Previous treatment with an oligonucleotide (including small interfering ribonucleic acid) within 4 months of Screening if a single dose was received, or within 12 months of Screening if multiple doses were received. This exclusion does not apply to vaccines (both messenger ribonucleic acid \\[mRNA\\] and viral vector vaccines).\n6. History of gene therapy or cell transplantation, or any experimental brain surgery.\n7. Current obstructive hydrocephalus.\n8. Known brain or spinal disease or previous spinal surgery that would interfere with the lumbar puncture (LP) process, CSF circulation, or safety assessment.\n9. Hospitalization for any major medical or surgical procedure involving general anesthesia within 12 weeks prior to Screening or planned during the study.\n10. Have any other conditions, which, in the opinion of the Investigator, would make the participant unsuitable for inclusion, or could interfere with the participant participating in or completing the study.","2 Years",{"count":113,"type":21},24,"INTERVENTIONAL",[116],"PHASE1","The primary purpose of this study is to evaluate the safety and tolerability of ION356.",[25],"2025-12-05",{"date":121,"type":32},"2025-12-12",{"date":123,"type":32},"2024-04-10",{"date":125,"type":21},"2028-06",{"name":38,"class":39},7,{"id":129,"slug":130,"hasResults":11,"nctId":131,"briefTitle":132,"officialTitle":133,"acronym":134,"eligibilityCriteria":135,"healthyVolunteers":11,"sex":47,"minAge":4,"maxAge":4,"enrollmentInfo":136,"targetDuration":138,"studyType":22,"phases":4,"briefSummary":139,"conditions":140,"keywords":200,"overallStatus":28,"whyStopped":4,"lastUpdateSubmitDate":207,"lastUpdatePostDateStruct":208,"startDateStruct":210,"completionDateStruct":212,"leadSponsor":214,"locationsCount":216},"100289408","the-myelin-disorders-biorepository-project-100289408","NCT03047369","The Myelin Disorders Biorepository Project","The Myelin Disorders Biorepository Project and Global Leukodystrophy Initiative Clinical Trials Network","MDBP","Inclusion Criteria (Affected Subjects):\n\n* Male or female of any age;\n* Suspected or confirmed diagnosis of leukodystrophy or other disorder affecting the white matter of the brain based primarily on the finding of central nervous system neuroimaging consistent with this diagnosis or on an existing diagnosis of a leukodystrophy or genetic leukoencephalopathy as defined in existing classification systems, or in the presence of variant(s) of uncertain significance or genotype consistent with leukodytrophy;\n* Documentation of informed consent by the subject, parent, or legal guardian, and, if appropriate, documentation of assent;\n* Willingness to provide clinical data, participate in standardized assessments, and\u002For provide biologic samples.\n\nExclusion Criteria (Affected Subjects)\n\n* Established diagnosis at the time of referral that is not consistent with a genetic disorder of the white matter, such as an acquired demyelinating condition (e.g. multiple sclerosis), or an infectious etiology, with the exception of sequelae of congenital infections such as CMV;\n* Inability to provide consent.\n\nInclusion Criteria (Healthy Controls)\n\n* Male or female of any age;\n* Individuals with no confirmed or suspected diagnosis of leukodystrophy or other disorder affecting the white matter of the brain (including affected patients' caregivers);\n* Documentation of informed consent by the subject, parent, or legal guardian, and, if appropriate, documentation of assent.\n\nExclusion Criteria (Healthy Controls)\n\n\\- Inability to provide consent.",{"count":137,"type":21},12000,"10 Years","The Myelin Disorders Biorepository Project (MDBP) seeks to collect and analyze clinical data and biological samples from leukodystrophy patients worldwide to support ongoing and future research projects. The MDBP is one of the world's largest leukodystrophy biorepositories, having enrolled nearly 2,000 affected individuals since it was launched over a decade ago.\n\nResearchers working in the biorepository hope to use these materials to uncover new genetic etiologies for various leukodystrophies, develop biomarkers for use in future clinical trials, and better understand the natural history of these disorders. The knowledge gained from these efforts may help improve the diagnostic tools and treatment options available to patients in the future.",[74,141,142,143,144,145,54,146,147,148,149,150,151,152,153,154,155,156,157,158,159,53,160,161,162,163,164,165,166,167,168,169,170,171,172,173,52,174,27,25,175,176,177,178,179,180,181,182,183,184,185,58,186,187,188,189,190,191,192,193,194,195,196,197,198,199],"White Matter Disease","Leukoencephalopathies","4H Syndrome","Adrenoleukodystrophy","AMN","ALD Gene Mutation","ALD (Adrenoleukodystrophy)","X-linked Adrenoleukodystrophy","X-ALD","Adrenomyeloneuropathy","Aicardi Goutieres Syndrome","AGS","Alexander Disease","Alexanders Leukodystrophy","AxD","ADLD","Canavan Disease","CTX","Cerebrotendinous Xanthomatoses","GALC Deficiency","Globoid Leukodystrophy","TUBB4A-Related Leukodystrophy","H-ABC - Hypomyelination, Atrophy of Basal Ganglia and Cerebellum","HBSL","HBSL - Hypomyelination, Brain Stem, Spinal Cord, Leg Spasticity","LBSL","Leukoencephalopathy With Brain Stem and Spinal Cord Involvement and High Lactate Syndrome (Disorder)","Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation","ALSP","CSF1R Gene Mutation","HCC - Hypomyelination and Congenital Cataract","MLC1","Megalencephalic Leukoencephalopathy With Subcortical Cysts","Metachromatic Leukodystrophy","PLP1 Null Syndrome","PLP1 Gene Duplication | Blood or Tissue | Mutations","Pelizaeus Merzbacher Like Disease","Peroxisomal Biogenesis Disorder","Zellweger Syndrome","Refsum Disease","Salla Disease","Sialic Storage Disease","Sjögren","Sjogren-Larsson Syndrome","Van Der Knapp Disease","Charcot-Marie-Tooth","CMT","Mct8 (Slc16A2)-Specific Thyroid Hormone Cell Transporter Deficiency","Allan-Herndon-Dudley Syndrome","Cadasil","Cockayne Syndrome","Multiple Sulfatase Deficiency","Gangliosidoses","GM2 Gangliosidosis","BPAN","Labrune Syndrome","LCC","Mucopolysaccharidoses","TBCK-Related Intellectual Disability Syndrome",[201,202,203,204,205,206],"leukodystrophy","white matter disease","leukoencephalopathy","myelin","demyelinating","mdbp","2025-10-22",{"date":209,"type":32},"2025-10-23",{"date":211,"type":32},"2016-12-08",{"date":213,"type":21},"2030-12-08",{"name":215,"class":102},"Children's Hospital of Philadelphia",23,{"id":218,"slug":219,"hasResults":11,"nctId":220,"briefTitle":221,"officialTitle":222,"acronym":223,"eligibilityCriteria":224,"healthyVolunteers":11,"sex":47,"minAge":225,"maxAge":226,"enrollmentInfo":227,"targetDuration":4,"studyType":114,"phases":229,"briefSummary":230,"conditions":231,"keywords":238,"overallStatus":28,"whyStopped":4,"lastUpdateSubmitDate":241,"lastUpdatePostDateStruct":242,"startDateStruct":244,"completionDateStruct":246,"leadSponsor":248,"locationsCount":103},"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":228,"type":21},40,[116],"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.",[144,73,232,233,234,235,25,65,61,236,64,237],"Mucopolysaccharidosis II","Leukodystrophy, Globoid Cell","Leukodystrophy, Metachromatic","Neimann Pick Disease","Brain Diseases, Metabolic, Inborn","Sanfilippo Mucopolysaccharidoses",[144,73,239,240,174,54,52,27],"Hunter Syndrome","Krabbe","2025-09-02",{"date":243,"type":32},"2025-09-08",{"date":245,"type":4},"2014-09",{"date":247,"type":21},"2026-10",{"name":249,"class":102},"Joanne Kurtzberg, MD"]