Large-scale testing (Phase 3)Study completedNCT00705939What this trial is testingPlant Cell Expressed Recombinant Human Glucocerebrosidase Extension TrialWho this might be right forGaucher Disease Pfizer 45
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
Not applicableStudy completedNCT02785744What this trial is testingGenzyme Osteopenia/Osteoporosis StudyWho this might be right forGaucher Disease NYU Langone Health 76
Not applicableActive Not RecruitingNCT07226622What this trial is testingPrescreening Study to Identify Potential Wilson Disease Participants for Gene-Editing Clinical TrialWho this might be right forWilson Disease Prime Medicine, Inc. 30
Not applicableUnknownNCT05548751What this trial is testingPhysiotherapy Assessment Based on the ICF Model in The Lesch-Nyhan Syndrome: Case ReportWho this might be right forLesch-Nyhan Syndrome Uskudar University 1
Testing effectiveness (Phase 2)Active Not RecruitingNCT04480567What this trial is testingAAV Gene Therapy Study for Subjects with PKUWho this might be right forPhenylketonuria (PKU) BioMarin Pharmaceutical 100
Not applicableUnknownNCT06048601What this trial is testing18F-florbetaben PET-CT to Non-invasively Diagnose Cardiac AL AmyloidosisWho this might be right forAmyloidAmyloid Cardiomyopathy Fondazione Toscana Gabriele Monasterio 150
Not applicableUnknownNCT05255328What this trial is testingClinical Long Term Evaluation of Glutamine Supplement in MELAS SyndromeWho this might be right forMELAS Syndrome Hospital Universitario 12 de Octubre 9
Testing effectiveness (Phase 2)Study completedNCT02909400What this trial is testingThe KHENERGY StudyWho this might be right forMitochondrial DiseasesMitochondrial MyopathiesMitochondrial Encephalomyopathies+2 more Khondrion BV 20
Not applicableUnknownNCT01914536What this trial is testingA Natural History Study of Adult Onset Pompe Disease Using Muscle MRIWho this might be right forPompe Disease Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau 30
Early research (Phase 1)Active Not RecruitingNCT06247670What this trial is testingStudy of CMP-CPS-001 in Healthy Volunteers and Participants With Abnormal Heterozygous OTC GenotypeWho this might be right forHealthy VolunteersOTC Deficiency CAMP4 Therapeutics Corporation 120
Not applicableStudy completedNCT01619722What this trial is testingStudy of a National Cohort of Adult Patients With PhenylketonuriaWho this might be right forPKUHyperphenylalaninemia University Hospital, Tours 220
Not applicableStudy completedNCT01065753What this trial is testingMulti-faceted Evaluations Following Weight Reduction in Subjects With Metabolic SyndromeWho this might be right forMetabolic Syndrome Taichung Veterans General Hospital 40
Testing effectiveness (Phase 2)Active Not RecruitingNCT05445323What this trial is testingGene Therapy for Cardiomyopathy Associated With Friedreich's AtaxiaWho this might be right forFriedreich AtaxiaCardiomyopathy, Secondary Lexeo Therapeutics 8
Not applicableStudy completedNCT00830583What this trial is testingPompe Prevalence Study in Patients With Muscle Weakness Without DiagnosisWho this might be right forPompe's Disease Centre Hospitalier Universitaire de Nice 400
Not applicableStudy completedNCT01391637What this trial is testingLong-Term Follow-Up Study of Human Stem Cells Transplanted in Subjects With Connatal Pelizaeus-Merzbacher Disease (PMD)Who this might be right forPelizaeus-Merzbacher DiseasePMD StemCells, Inc. 4
Not applicableStudy completedNCT05356377What this trial is testingPreliminary Study of Brain Effects of Palynziq-Related Changes in Phenylalanine in Individuals With PKUWho this might be right forPhenylketonurias University of Missouri-Columbia 6
Not applicableActive Not RecruitingNCT07011329What this trial is testingBrain Alterations Based on Multiplex MR Imaging in Nasopharyngeal Carcinoma Patients After Treatment, and Their Correlation With Clinical Cognitive Scores.Who this might be right forNasopharyngeal Carcinoma (NPC) Hubei Cancer Hospital 60
Not applicableStudy completedNCT06180421What this trial is testingMitochondrial Video Assessment Source Material StudyWho this might be right forPolG, Primary Mitochondrial Myopathy The Emmes Company, LLC 28
Not applicableWithdrawnNCT02298647What this trial is testingBiomarker for Gangliosidosis: BioGM1/BioGM2 (BioGM1/GM2)Who this might be right forHepato-splenomegalyDysostosis MultiplexSeizures+1 more CENTOGENE GmbH Rostock