[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"adrenoleukodystrophy\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:adrenoleukodystrophy":24},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,4,0,[8,41,135,166],{"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":19,"studyType":20,"phases":4,"briefSummary":21,"conditions":22,"keywords":26,"overallStatus":28,"whyStopped":4,"lastUpdateSubmitDate":29,"lastUpdatePostDateStruct":30,"startDateStruct":33,"completionDateStruct":35,"leadSponsor":37,"locationsCount":40},"100346360","adrenoleukodystrophy-national-registry-study-100346360",false,"NCT03789721","Adrenoleukodystrophy National Registry Study","Inclusion Criteria\n\n* Age 0 - 100\n* ALD patients or family member meeting any of the following criteria:\n\n  * Any patient diagnosed with ALD (confirmed by positive VLCFA testing and\u002For genetic mutation).\n  * Known or presumed mutation with ALD based on pedigree or confirmed mutation in ABCD1 gene\n* Participants living in the United States and territories\n\nExclusion Criteria\n\n* Patients diagnosed with ALD who lack the capacity to consent\u002Fassent AND do not have a designated legally authorized representative or guardian.\n* Patients who have undergone BMT or other cellular therapy .\n* Patients not fluent in English who are unable to consent in-person at the BMT Journey Clinic.\n* Patients who are illiterate\n* Patient determined by the PI or designee to be unlikely to complete required study components (due to language barriers, compliance issues, etc.)","ALL",{"count":17,"type":18},1000,"ESTIMATED","99 Years","OBSERVATIONAL","The aim of this registry to understand the natural history and disease progression in ALD and potentially develop bio-markers using the biospecimens collected using this registry.",[23,24,25],"ALD (Adrenoleukodystrophy)","Adrenoleukodystrophy","Cerebral Adrenoleukodystrophy",[27],"Registry, VLCFA, ABCD1, X-chromosome","RECRUITING","2026-05-11",{"date":31,"type":32},"2026-05-12","ACTUAL",{"date":34,"type":32},"2019-05-01",{"date":36,"type":18},"2030-02",{"name":38,"class":39},"Masonic Cancer Center, University of Minnesota","OTHER",1,{"id":42,"slug":43,"hasResults":11,"nctId":44,"briefTitle":45,"officialTitle":46,"acronym":47,"eligibilityCriteria":48,"healthyVolunteers":11,"sex":15,"minAge":4,"maxAge":4,"enrollmentInfo":49,"targetDuration":51,"studyType":20,"phases":4,"briefSummary":52,"conditions":53,"keywords":118,"overallStatus":28,"whyStopped":4,"lastUpdateSubmitDate":125,"lastUpdatePostDateStruct":126,"startDateStruct":128,"completionDateStruct":130,"leadSponsor":132,"locationsCount":134},"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":50,"type":18},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.",[54,55,56,57,24,58,59,60,23,61,62,63,64,65,66,67,68,69,70,71,72,73,74,75,76,77,78,79,80,81,82,83,84,85,86,87,88,89,90,91,92,93,94,95,96,97,98,99,100,101,102,103,104,105,106,107,108,109,110,111,112,113,114,115,116,117],"Leukodystrophy","White Matter Disease","Leukoencephalopathies","4H Syndrome","AMN","ALD","ALD Gene Mutation","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",[119,120,121,122,123,124],"leukodystrophy","white matter disease","leukoencephalopathy","myelin","demyelinating","mdbp","2025-10-22",{"date":127,"type":32},"2025-10-23",{"date":129,"type":32},"2016-12-08",{"date":131,"type":18},"2030-12-08",{"name":133,"class":39},"Children's Hospital of Philadelphia",23,{"id":136,"slug":137,"hasResults":11,"nctId":138,"briefTitle":139,"officialTitle":140,"acronym":141,"eligibilityCriteria":142,"healthyVolunteers":143,"sex":15,"minAge":144,"maxAge":145,"enrollmentInfo":146,"targetDuration":4,"studyType":20,"phases":4,"briefSummary":148,"conditions":149,"keywords":151,"overallStatus":28,"whyStopped":4,"lastUpdateSubmitDate":156,"lastUpdatePostDateStruct":157,"startDateStruct":159,"completionDateStruct":161,"leadSponsor":163,"locationsCount":165},"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":147,"type":18},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.",[24,63,89,150],"Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia",[54,152,153,154,155],"Central Nervous System Diseases","Nervous System Diseases","Immune system","Neuroinflammation","2025-09-18",{"date":158,"type":32},"2025-09-24",{"date":160,"type":32},"2021-08-30",{"date":162,"type":18},"2027-02",{"name":164,"class":39},"Assistance Publique - Hôpitaux de Paris",2,{"id":167,"slug":168,"hasResults":11,"nctId":169,"briefTitle":170,"officialTitle":171,"acronym":172,"eligibilityCriteria":173,"healthyVolunteers":11,"sex":15,"minAge":174,"maxAge":175,"enrollmentInfo":176,"targetDuration":4,"studyType":178,"phases":179,"briefSummary":181,"conditions":182,"keywords":193,"overallStatus":28,"whyStopped":4,"lastUpdateSubmitDate":196,"lastUpdatePostDateStruct":197,"startDateStruct":199,"completionDateStruct":201,"leadSponsor":203,"locationsCount":40},"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":177,"type":18},40,"INTERVENTIONAL",[180],"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.",[24,183,184,185,186,187,91,188,189,190,191,192],"Batten Disease","Mucopolysaccharidosis II","Leukodystrophy, Globoid Cell","Leukodystrophy, Metachromatic","Neimann Pick Disease","Sandhoff Disease","Tay-Sachs Disease","Brain Diseases, Metabolic, Inborn","Alpha-Mannosidosis","Sanfilippo Mucopolysaccharidoses",[24,183,194,195,89,59,88,90],"Hunter Syndrome","Krabbe","2025-09-02",{"date":198,"type":32},"2025-09-08",{"date":200,"type":4},"2014-09",{"date":202,"type":18},"2026-10",{"name":204,"class":39},"Joanne Kurtzberg, MD"]