[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"vanishing-white-matter-disease\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:vanishing-white-matter-disease":27},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,3,0,[8,47,110],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":18,"targetDuration":4,"studyType":21,"phases":22,"briefSummary":25,"conditions":26,"keywords":28,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":35,"lastUpdatePostDateStruct":36,"startDateStruct":39,"completionDateStruct":41,"leadSponsor":43,"locationsCount":46},"100497430","phase-1-an-open-label-exploratory-study-of-fosigotifator-in-participants-with-vanishing-white-matter-disease-100497430",false,"NCT05757141","An Open-Label Exploratory Study of Fosigotifator in Participants With Vanishing White Matter Disease","A Phase 1b\u002F2 Open-label Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Exploratory Efficacy Following Fosigotifator Administration in Adult and Pediatric Subjects With Vanishing White Matter Disease","Inclusion Criteria:\n\n1. Males and females \\>= 6 months of age at the time of Screening.\n2. Have VWM disease defined as:\n\n   1. A clinical diagnosis by a physician experienced in the assessment of VWM disease; and\n   2. A molecular diagnosis of VWM disease, and\n   3. A magnetic resonance imaging (MRI) presentation consistent with VWM disease.\n3. Have a designated caregiver who is able to complete the respective caregiver-centered assessments.\n4. Signed and dated informed consent provided by the participant, or from a legally authorized representative (LAR) if participant is incapable to consent themselves.\n5. Participants must meet criteria (a) and at least one of the following functional criteria (b or c):\n\n   1. Medical history of at least 1 neurological symptom that is assessed by the investigator as having a reasonable possibility of being related to VWM disease.\n   2. Motor criteria defined as inability to walk 10 or more steps with or without light support of 2 hands\n   3. Cognitive criteria as assessed by the age-appropriate version of the Wechsler Intelligence Scale, with participants scoring \\\u003C 50 on specific indices; specific details can be provided by the Study physician.\n6. Pediatric participants in Cohort 4 must meet both criteria a and b below, or criterion c:\n\n   1. Medical history of at least 1 neurological symptom that is assessed by the investigator as having a reasonable possibility of being related to VWM disease.\n   2. Motor criteria as defined below:\n\n   i. More than minimal head control as demonstrated by: While in prone position, the participant can lift his\u002Fher head and sustain the position for 10 seconds and bring his\u002Fher arms actively to weight bearing in that position.\n\n   c. Presymptomatic and homozygous for Cree Leukoencephalopathy (EIF2B5 R195H) or other mutation with known imminent risk of significant clinical decline or death (sponsor must be notified and provide approval prior to screening and enrolling a participant that meets eligibility with only this criterion).\n7. All male participants who are sexually active and not surgically sterilized must agree to use an acceptable contraceptive method. Additionally, male participants must agree to not donate sperm during the study until 30 days after the final dose of study drug.\n8. All female participants who are sexually active and of childbearing potential must agree to use a highly effective contraceptive method. Additionally, female participants must agree to not donate eggs during the study and for 30 days after the final dose of study drug.\n\nExclusion Criteria:\n\n1. Pediatric participants \\>= 6 months and \\\u003C 6 years of age must not be on any form of respiratory support at the time of Screening.\n2. Changes in medication use for the management of VWM disease symptoms within the 4 weeks preceding Screening.\n3. Seizure disorder not considered adequately controlled by the investigator within the 6 months preceding Screening.\n4. Participant who, in the opinion of the investigator, is incapable of completing study-required visits and procedures to assess primary and secondary endpoints.\n5. Adult female participants who are pregnant, breastfeeding or providing breast milk.\n6. Treatment with any other investigational treatment within 30 days or 5 half-lives (whichever is longer) prior to Baseline.\n7. Any clinically significant laboratory or imaging findings at Screening.","ALL","6 Months",{"count":19,"type":20},50,"ESTIMATED","INTERVENTIONAL",[23,24],"PHASE1","PHASE2","Fosigotifator is an investigational drug being researched for the treatment of Vanishing White Matter disease in adult, pediatric and infant participants. This is a 201-week, open-label, multiple cohort study enrolling adults, pediatric and infant participants with Vanishing White Matter disease.\n\nParticipants will attend regular visits during the course of the study and complete medical assessments, blood tests, questionnaires, and be evaluated for side effects.",[27],"Vanishing White Matter Disease",[29,30,31,32,33],"Neurodegenerative Diseases","Nervous System Diseases","Central Nervous System Brain Diseases","Hereditary Central Nervous System","Leukoencephalopathy with Vanishing White Matter","RECRUITING","2026-06-30",{"date":37,"type":38},"2026-07-01","ACTUAL",{"date":40,"type":38},"2023-03-13",{"date":42,"type":20},"2035-10",{"name":44,"class":45},"Calico Life Sciences LLC","INDUSTRY",5,{"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":84,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":99,"lastUpdatePostDateStruct":100,"startDateStruct":102,"completionDateStruct":104,"leadSponsor":106,"locationsCount":109},"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":54,"type":20},1500,"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.",[58,59,60,61,62,63,27,64,65,66,67,68,69,70,71,72,73,74,75,76,77,78,79,80,81,82,83],"MLD","Krabbe Disease","ALD","MPS I","MPS II","MPS III","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",[85,86,87,88,89,90,91,92,93,94,95,96,97,98],"Pediatric","Rare","Neurodegenerative","Genetic","Neurodevelopment","Brain","MRI","Biorepository","NDRD","Longitudinal","Cognitive","Motor","Language","Adaptive behavior","2026-02-04",{"date":101,"type":38},"2026-02-09",{"date":103,"type":38},"2012-01-11",{"date":105,"type":20},"2035-01",{"name":107,"class":108},"University of Pittsburgh","OTHER",1,{"id":111,"slug":112,"hasResults":11,"nctId":113,"briefTitle":114,"officialTitle":115,"acronym":116,"eligibilityCriteria":117,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":118,"targetDuration":120,"studyType":55,"phases":4,"briefSummary":121,"conditions":122,"keywords":183,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":190,"lastUpdatePostDateStruct":191,"startDateStruct":193,"completionDateStruct":195,"leadSponsor":197,"locationsCount":199},"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":119,"type":20},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.",[80,123,124,125,126,127,60,128,129,130,131,132,133,134,135,136,137,138,139,140,141,59,142,143,144,145,146,147,148,149,150,151,152,153,154,155,58,156,157,79,158,159,160,161,162,163,164,165,166,167,168,27,169,170,171,172,173,174,175,176,177,178,179,180,181,182],"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","PMD","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",[184,185,186,187,188,189],"leukodystrophy","white matter disease","leukoencephalopathy","myelin","demyelinating","mdbp","2025-10-22",{"date":192,"type":38},"2025-10-23",{"date":194,"type":38},"2016-12-08",{"date":196,"type":20},"2030-12-08",{"name":198,"class":108},"Children's Hospital of Philadelphia",23]