Not applicableStudy completedNCT02843555What this trial is testingNatural History of the LeukodystrophiesWho this might be right forLeukodystrophies Baylor Research Institute 10
Not applicableWithdrawnNCT01093105What this trial is testingAn Observational Study of Pediatric Subjects With Globoid Cell Leukodystrophy (GLD)Who this might be right forLeukodystrophy, Globoid Cell Shire
Testing effectiveness (Phase 2)WithdrawnNCT02715505What this trial is testingSafety and Exploratory Efficacy of HSC835 in Patients With Inherited Metabolic Disorders (IMD)Who this might be right forInherited Metabolic Disorders IMD Novartis Pharmaceuticals
Not applicableUnknownNCT00005900What this trial is testingStudy of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell TransplantationWho this might be right forI Cell DiseaseFucosidosisGloboid Cell Leukodystrophy+9 more Fairview University Medical Center 10
Not applicableStudy completedNCT00001671What this trial is testingThe Classification and Cause of Leukodystrophies of Unknown CauseWho this might be right forLysosomal Storage Disease National Institute of Neurological Disorders and Stroke (NINDS) 400
Not applicableLooking for participantsNCT03333200What this trial is testingLongitudinal Study of Neurodegenerative DisordersWho this might be right forMLDKrabbe DiseaseALD+24 more University of Pittsburgh 1,500
Testing effectiveness (Phase 2)Active Not RecruitingNCT07222371What this trial is testingAn Open-label, Single Center, Single Participant Study of an Experimental Antisense Oligonucleotide Treatment for TUBB4A-related LeukodystrophyWho this might be right forGenetic DiseaseTUBB4A-Related Leukodystrophy University of California, San Diego 1
Not applicableStudy completedNCT01626092What this trial is testingReduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal DisordersWho this might be right forLysosomal Storage DiseasePeroxisomal Disorder Masonic Cancer Center, University of Minnesota 3
Not applicableActive Not RecruitingNCT04126005What this trial is testingNatural History Study of Patients With Canavan Disease (CANinform Study)Who this might be right forCanavan Disease Aspa Therapeutics 70
Not applicableNo Longer AvailableNCT03639844What this trial is testingBPX-501 T Cells Infused Post Stem Cell Transplant in Pediatrics With Non-Malignant Disorders Ineligible for BPU004 StudyWho this might be right forHurler SyndromeInherited Metabolic DisorderLysosomal Storage Disorder+2 more Bellicum Pharmaceuticals
Large-scale testing (Phase 3)Study completedNCT04270682What this trial is testingStudy to Evaluate Patients With Cerebrotendinous Xanthomatosis (RESTORE)Who this might be right forCTX Mirum Pharmaceuticals, Inc. 19
Testing effectiveness (Phase 2)WithdrawnNCT03304717What this trial is testingReverse Transcriptase Inhibitors in Aicardi Goutières SyndromeWho this might be right forAicardi Goutières Syndrome Children's Hospital of Philadelphia
Early research (Phase 1)Study completedNCT02595489What this trial is testingA Pilot Study of Vitamin D in Boys With X-linked AdrenoleukodystrophyWho this might be right forX-linked Adrenoleukodystrophy Stanford University 21
Not applicableStudy completedNCT02699190What this trial is testingLeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for LeukodystrophiesWho this might be right forLeukodystrophyWhite Matter Disease4H Syndrome+61 more Children's Hospital of Philadelphia 236
Not applicableEnded earlyNCT01963650What this trial is testingNatural History Study of Children With Metachromatic LeukodystrophyWho this might be right forLipid Metabolism DisordersMetachromatic Leukodystrophy (MLD)Nervous System Diseases+11 more Shire 1
Testing effectiveness (Phase 2)Looking for participantsNCT04998396What this trial is testingAAV9 Gene Therapy in Participants With Canavan Disease (CANaspire Clinical Trial)Who this might be right forCanavan Disease Aspa Therapeutics 26
Not applicableStudy completedNCT00006057What this trial is testingDiagnostic and Screening Study of Genetic DisordersWho this might be right forTay-Sachs DiseasePorphyria, ErythropoieticLeukodystrophy, Globoid Cell+1 more National Center for Research Resources (NCRR) 50
Not applicableStudy completedNCT00001780What this trial is testingMagnetic Stimulation of the Human Nervous SystemWho this might be right forDemyelinating DiseaseHealthyLysosomal Storage Disease+2 more National Institute of Neurological Disorders and Stroke (NINDS) 450
Not applicableUnknownNCT04319796What this trial is testingEuropean Registry on Rare Neurological DiseasesWho this might be right forRare Diseases University Hospital Tuebingen 5,000
Not applicableLooking for participantsNCT04528355What this trial is testingData Collection Study of Patients With Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT With RICWho this might be right forPrimary Immunodeficiency (PID)Congenital Bone Marrow Failure SyndromesInherited Metabolic Disorders (IMD)+2 more Paul Szabolcs 50