[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"adrenomyeloneuropathy\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:adrenomyeloneuropathy":36},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,3,0,[8,111,142],{"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":117,"eligibilityCriteria":118,"healthyVolunteers":119,"sex":17,"minAge":120,"maxAge":121,"enrollmentInfo":122,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":124,"conditions":125,"keywords":127,"overallStatus":98,"whyStopped":4,"lastUpdateSubmitDate":132,"lastUpdatePostDateStruct":133,"startDateStruct":135,"completionDateStruct":137,"leadSponsor":139,"locationsCount":141},"100433532","modeling-macrophages-activation-pattern-in-x-linked-adrenoleukodystrophy-metachromatic-leukodystrophy-and-adult-onset-leukoencephalopathy-with-axonal-spheroids-and-pigmented-glia-100433532","NCT04925349","Modeling Macrophages Activation Pattern in X-linked Adrenoleukodystrophy, Metachromatic Leukodystrophy and Adult Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia","MATRIX - \"Modeling Macrophages Activation Pattern in X-linked Adrenoleukodystrophy, Metachromatic Leukodystrophy and Adult Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia\"","MATRIX","Inclusion Criteria:\n\nBoys aged between 3 and 18 years (inclusive) diagnosed with C-CALD (elevated levels of VLCFA and leukodystrophy at brain MRI)\n\n* Boys or girls aged between 15 months and 18 years (inclusive) diagnosed with MLD (low ARSA activity and accumulation of sulfatides in urine)\n* Presymptomatic boys carrying ABCD1 mutations aged between 3 and 18 years (inclusive) (PRE-ALD)\n* Adult males or females aged between 18 and 60 diagnosed with MLD (low ARSA activity and accumulation of sulfatides in urine)\n* Males aged between 18 and 60 years diagnosed with AMN (elevated VLCFA and clinical symptoms of AMN without leukodystrophy at brain MRI)\n* Males aged between 18 and 60 years diagnosed with CALD (elevated VLCFA with leukodystrophy at brain MRI)\n* Adult males or females aged between 18 and 60 years diagnosed with ALSP (CSF1R mutation and leukodystrophy at brain MRI)\n* Presymptomatic patient adults (males or females) carrying CSF1R mutations (PRE-ALSP)\n* Children (15 months-18 years) without neurologic disease (no obvious neurological symptoms, normal neurologic examination)\n* Adults aged between 18 and 60 years without neurologic disease (no overt neurological symptoms)\n* Informed consent obtained :\n* from the parents or guardian for children patients and children controls;\n* from subject himself for adult patients and adult controls.\n\nExclusion Criteria:\n\n* Participation to a therapeutic clinical trial\n* Treatment likely to modify the immune system\n* Unable to have a blood collection (i.e. low hemoglobin level at the investigator's judgment)\n* Any other reason, to the discretion of the investigator\n* Children or adults without health insurance or social security",true,"15 Months","60 Years",{"count":123,"type":20},100,"This study is a national, non-randomized, open-label, multi-site with minimal risk study in adult with adrenomyeloneuropathy (AMN), childhood and adult subjects with cerebral ALD (cALD), juvenile\u002Fadult metachromatic leukodystrophy (MLD) and adults with leukoencephalopathy and axonal spheroids and pigmented glia (ALSP). 49 subjects will be enrolled with one blood sample collection during one of their medical follow-up visit.\n\nThis trial will evaluate the role of innate immunity to influence disease progression in X-ALD, MLD and ALSP, and if the mutations related to these leukodystrophies result in a specific immune response leading to the pathogenesis.",[29,36,62,126],"Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia",[25,128,129,130,131],"Central Nervous System Diseases","Nervous System Diseases","Immune system","Neuroinflammation","2025-09-18",{"date":134,"type":102},"2025-09-24",{"date":136,"type":102},"2021-08-30",{"date":138,"type":20},"2027-02",{"name":140,"class":109},"Assistance Publique - Hôpitaux de Paris",2,{"id":143,"slug":144,"hasResults":11,"nctId":145,"briefTitle":146,"officialTitle":147,"acronym":4,"eligibilityCriteria":148,"healthyVolunteers":119,"sex":17,"minAge":149,"maxAge":150,"enrollmentInfo":151,"targetDuration":4,"studyType":153,"phases":154,"briefSummary":156,"conditions":157,"keywords":4,"overallStatus":98,"whyStopped":4,"lastUpdateSubmitDate":163,"lastUpdatePostDateStruct":164,"startDateStruct":166,"completionDateStruct":168,"leadSponsor":170,"locationsCount":172},"100473362","home-exercise-for-individuals-with-neurodegenerative-disease-100473362","NCT05443906","Home Exercise for Individuals with Neurodegenerative Disease","Study of Adapted Exercise and Mindfulness Interventions to Improve Motor Function and Sleep Quality in Individuals with Neurodegenerative Disease","Inclusion Criteria:\n\n* The eligibility criteria for males is X-linked adrenoleukodystrophy as determined by biochemical determination or genetic testing.\n* The eligibility criteria for females is X-linked adrenoleukodystrophy as determined by biochemical determination, genetic testing, or pedigree analysis.\n* The Leukoenceophalopathy with brainstem and spinal cord involvement and lactate elevation inclusion criterion is a confirmed DARS2 mutation through genetic analysis.\n* For people with cerebellar ataxia, people with diagnoses of cerebellar damage from stroke, tumor or degeneration will be included. Those with a genetically confirmed cerebellar disorder will be asked to provide their genetic testing to note their particular type of ataxia.\n* We will also include patients with other neurodegenerative diseases similar to these disorders as determined by chart review and clinical exam.\n\nHealthy Volunteers\n\n* Able to stand for 30 seconds without upper extremity support\n* Ambulatory (including use of a cane or a walker)\n* Able to walk for 2 minutes\n\nExclusion Criteria:\n\n* Other medical or psychological conditions which in the clinical judgement of the investigator would interfere with acquiring the study information or performing the exercises safely including but not limited to:\n\nUncontrolled hypertension, orthopedic conditions, diabetes, seizure disorder, peripheral vestibular loss, severe aphasia, dementia, pregnancy","5 Years","75 Years",{"count":152,"type":20},30,"INTERVENTIONAL",[155],"NA","The primary goal of this study is to address the need for targeted therapeutic interventions for impairments that impact walking in related neurodegenerative diseases.",[158,25,159,53,160,161,162,36],"Neurodegenerative Diseases","Ataxia","Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and High Lactate Syndrome (Disorder)","Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation","Cerebellar Ataxia","2025-03-06",{"date":165,"type":102},"2025-03-10",{"date":167,"type":102},"2023-02-13",{"date":169,"type":20},"2027-07-30",{"name":171,"class":109},"Hugo W. Moser Research Institute at Kennedy Krieger, Inc.",1]