Not applicableNot Yet RecruitingNCT03725670What this trial is testingDirect Lentiviral Injection Gene Therapy for MLDWho this might be right forMetachromatic Leukodystrophy (MLD) Shenzhen Geno-Immune Medical Institute 10
Not applicableStudy completedNCT02468570What this trial is testingSubstudy to Evaluate Executive Function in Adults With PKU Who Are Participating in the Phase 3 Study, 165-302Who this might be right forPhenylketonuria BioMarin Pharmaceutical 9
Not applicableStudy completedNCT01002469What this trial is testingStudy to Evaluate 13 C Isotope Ratio Measurement for Urea Cycle Capacity AssessmentWho this might be right forUrea Cycle Disorders Cytonet GmbH & Co. KG 10
Not applicableStudy completedNCT03299829What this trial is testingA Retrospective Study to Assess the Clinical Efficacy and Safety of Trientine in Wilson's Disease PatientsWho this might be right forTrientine Treatment for Wilson's Disease Excelsior 48
Not applicableStudy completedNCT04050137What this trial is testingTherapeutic Exercise to Treat Neuropathic PainWho this might be right forGaucher DiseaseFabry Disease Universidad de Zaragoza 5
Not applicableLooking for participantsNCT07701694What this trial is testingFunctional Evaluation in Patients With Urea Cycle Disorders (UCD) During a Driving TaskWho this might be right forUrea Cycle Disorder St. Jude Children's Research Hospital 60
Large-scale testing (Phase 3)Study completedNCT01896102What this trial is testingThe Efficacy and Safety of Hematopoietic Stem Cells Transduced With Lenti-D Lentiviral Vector for the Treatment of Cerebral Adrenoleukodystrophy (CALD)Who this might be right forCerebral Adrenoleukodystrophy (CALD) Genetix Biotherapeutics Inc. 32
Large-scale testing (Phase 3)Active Not RecruitingNCT06673056What this trial is testingA Pivotal Study of N-Acetyl-L-Leucine on Ataxia-Telangiectasia (A-T)Who this might be right forAtaxia-TelangiectasiaAtaxia-Telangiectasia (A-T) IntraBio Inc 60
Not applicableLooking for participantsNCT07484945What this trial is testingMultiomics Approach in Adult Patients With PhenylketonuriaWho this might be right forPhenylketonuria (PKU) University Hospital, Tours 149
Not applicableActive Not RecruitingNCT05692596What this trial is testingThe Pancreas Interception Center (PIC) for Early Detection, Prevention, and Novel TherapeuticsWho this might be right forPancreatic Ductal AdenocarcinomaPancreatic CystChronic Pancreatitis+10 more H. Lee Moffitt Cancer Center and Research Institute 317
Large-scale testing (Phase 3)Looking for participantsNCT06953583What this trial is testingLearn More About the Effects and Long-Term Safety of Omaveloxolone (BIIB141) in Children and Teens With Friedreich's AtaxiaWho this might be right forFriedreich Ataxia Biogen 255
Large-scale testing (Phase 3)Ended earlyNCT03643562What this trial is testingNiemann-Pick Type C Treatment With Adrabetadex for Symptoms of Brain and Nervous SystemWho this might be right forNiemann-Pick Type C Disease Mandos LLC 27
Not applicableStudy completedNCT00414583What this trial is testingStroke in Young Fabry Patients (sifap1): Frequency of Fabry Disease in Young Stroke PatientsWho this might be right forCerebrovascular Accident CENTOGENE GmbH Rostock 5,000
Not applicableLooking for participantsNCT07235709What this trial is testingEffect of Agalsidase Alfa on Cardiac Inflammation in Patients With Fabry Disease: A [18F]-FDG PET-CMR StudyWho this might be right forFabry Disease Yonsei University 25
Not applicableLooking for participantsNCT04675749What this trial is testingQuality of Life in Women With X-linked AdrenoleukodystrophyWho this might be right forX-linked Adrenoleukodystrophy Leipzig University Medical Center 200
Not applicableActive Not RecruitingNCT06239064What this trial is testingEarly Genetic Identification of ObesityWho this might be right forObesity, ChildhoodHyperphagiaRetinopathy+5 more Rolfs Consulting und Verwaltungs-GmbH (RCV) 1,000
Large-scale testing (Phase 3)Study completedNCT01104649What this trial is testingEfficacy of Riluzole in Hereditary Cerebellar AtaxiaWho this might be right forCerebellar Ataxia S. Andrea Hospital 60
Testing effectiveness (Phase 2)Study completedNCT03962114What this trial is testingEffects of Vitamin B3 in Patients With Ataxia TelangiectasiaWho this might be right forAtaxia TelangiectasiaATM Gene Mutation Radboud University Medical Center 24
Testing effectiveness (Phase 2)Not Yet RecruitingNCT07410455What this trial is testingAn Open-label, Phase 2 Pilot Study on the Efficacy and Safety of Piclidenoson in Patients With Lowe SyndromeWho this might be right forLowe Syndrome Can-Fite BioPharma 5
Not applicableLooking for participantsNCT02795052What this trial is testingNeurologic Stem Cell Treatment StudyWho this might be right forNeurologic DisordersNervous System DiseasesNeurodegenerative Diseases+23 more MD Stem Cells 500