[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"white-matter-disease\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:white-matter-disease":26},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,3,0,[8,111,144],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":18,"targetDuration":21,"studyType":22,"phases":4,"briefSummary":23,"conditions":24,"keywords":91,"overallStatus":98,"whyStopped":4,"lastUpdateSubmitDate":99,"lastUpdatePostDateStruct":100,"startDateStruct":103,"completionDateStruct":105,"leadSponsor":107,"locationsCount":110},"100289408","the-myelin-disorders-biorepository-project-100289408",false,"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.","ALL",{"count":19,"type":20},12000,"ESTIMATED","10 Years","OBSERVATIONAL","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.",[25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41,42,43,44,45,46,47,48,49,50,51,52,53,54,55,56,57,58,59,60,61,62,63,64,65,66,67,68,69,70,71,72,73,74,75,76,77,78,79,80,81,82,83,84,85,86,87,88,89,90],"Leukodystrophy","White Matter Disease","Leukoencephalopathies","4H Syndrome","Adrenoleukodystrophy","AMN","ALD","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","Krabbe Disease","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","MLD","Metachromatic Leukodystrophy","PMD","Pelizaeus-Merzbacher Disease","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","Vanishing White Matter 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",[92,93,94,95,96,97],"leukodystrophy","white matter disease","leukoencephalopathy","myelin","demyelinating","mdbp","RECRUITING","2025-10-22",{"date":101,"type":102},"2025-10-23","ACTUAL",{"date":104,"type":102},"2016-12-08",{"date":106,"type":20},"2030-12-08",{"name":108,"class":109},"Children's Hospital of Philadelphia","OTHER",23,{"id":112,"slug":113,"hasResults":11,"nctId":114,"briefTitle":115,"officialTitle":116,"acronym":4,"eligibilityCriteria":117,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":118,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":120,"conditions":121,"keywords":128,"overallStatus":98,"whyStopped":4,"lastUpdateSubmitDate":134,"lastUpdatePostDateStruct":135,"startDateStruct":137,"completionDateStruct":139,"leadSponsor":141,"locationsCount":143},"100504435","natural-history-study-of-patients-with-hpdl-mutations-100504435","NCT05848271","Natural History Study of Patients with HPDL Mutations","A Patient Registry and Natural History Study of Patients with Biallelic HPDL Mutations","Inclusion Criteria:\n\n* Any individuals diagnosed with HPDL variants\n* Clinical diagnosis can include:\n\n  * HPDL-related hereditary spastic paraplegia (HSP)\n  * HPDL-related neonatal mitochondrial encephalopathy\n  * Spastic paraplegia -83 (SPG83)\n  * Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA)\n\nExclusion Criteria:\n\n* Any known genetic abnormality (other than HPDL mutation)\n* Any condition that, in the opinion of the Site Investigator, could put the participant at undue risk and\u002For would ultimately prevent the completion of study procedures",{"count":119,"type":20},50,"This study uses medical records that allow retrospective data extraction of clinical manifestation to assess the natural history of HPDL mutations",[122,123,124,26,125,126,127],"Mitochondrial Encephalomyopathies","Hereditary Spastic Paraplegia","Spastic Paraplegia","Neonatal Encephalopathy","Mutation","Genetic Disease",[129,130,131,132,133],"HPDL","HPDL related neonatal mitochondrial encephalopathy","HPDL related hereditary spastic paraplegia","Spastic paraplegia-83","Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities","2025-03-25",{"date":136,"type":102},"2025-03-30",{"date":138,"type":102},"2023-05-18",{"date":140,"type":20},"2027-12-31",{"name":142,"class":109},"University of California, San Diego",1,{"id":145,"slug":146,"hasResults":11,"nctId":147,"briefTitle":148,"officialTitle":149,"acronym":4,"eligibilityCriteria":150,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":151,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":153,"conditions":154,"keywords":156,"overallStatus":98,"whyStopped":4,"lastUpdateSubmitDate":162,"lastUpdatePostDateStruct":163,"startDateStruct":165,"completionDateStruct":167,"leadSponsor":169,"locationsCount":143},"100333672","natural-history-study-of-leukoencephalopathy-with-brainstem-and-spinal-cord-involvement-and-lactate-elevation-lbsl-100333672","NCT03624374","Natural History Study of Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL)","Characterization of the Natural History of Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation","Inclusion Criteria:\n\n1. Confirmed DARS2 mutation through genetic analysis\n2. Ability of the caregiver or participant to speak and understand English at an 8th-grade level\n\nExclusion Criteria:\n\n* The vulnerable populations of prisoners, non-viable neonates, pregnant women, adults lacking the capacity to consent, non-English speakers or children who are in foster care or wards of the state.",{"count":152,"type":20},100,"In this study, we will conduct retrospective chart and imaging reviews and prospective longitudinal virtual assessments of individuals with LBSL.",[27,53,55,26,155,127],"Ataxia, Cerebellar",[157,158,159,160,161],"Natural History Study","Kennedy Krieger Institute","Virtual assessment","DARS2","Johns Hopkins Hospital","2024-07-01",{"date":164,"type":102},"2024-07-03",{"date":166,"type":102},"2018-04-01",{"date":168,"type":20},"2029-05",{"name":170,"class":109},"Hugo W. Moser Research Institute at Kennedy Krieger, Inc."]