Not applicableStudy completedNCT05400278What this trial is testingCharacterizing the Genotype and Phenotype in Adults With Bardet-Biedl SyndromeWho this might be right forBardet-Biedl Syndrome Oslo University Hospital 30
Large-scale testing (Phase 3)Study completedNCT01889862What this trial is testingPhase 3 Study to Evaluate the Efficacy & Safety of Self-Administered Injections of BMN165 by Adults With PKUWho this might be right forPhenylketonuria (PKU) BioMarin Pharmaceutical 215
Early research (Phase 1)Study completedNCT02750709What this trial is testingBioequivalence Study of Two Nitisinone Formulations Compared to OrfadinWho this might be right forHereditary Tyrosinemia, Type I Cycle Pharmaceuticals Ltd. 24
Very early researchNot Yet RecruitingNCT06178432What this trial is testingEvaluation of the Safety, Tolerability and Efficacy of Gene Therapy Drug for Late Onset Pompe Disease (LOPD)Who this might be right forPompe Disease (Late-onset) Huashan Hospital 6
Not applicableStudy completedNCT02218632What this trial is testingGlycosylation in Patients With GalactosaemiaWho this might be right forClassical Galactosaemia Children's University Hospital, Ireland 26
Not applicableStudy completedNCT06257901What this trial is testingA Co-designed Physical Activity Intervention in Fabry DiseaseWho this might be right forFabry Disease Brunel University 41
Early research (Phase 1)WithdrawnNCT06483802What this trial is testingASP2016 in Adults Who Have Heart Disease Associated With Friedreich AtaxiaWho this might be right forFriedreich AtaxiaCardiomyopathy Astellas Gene Therapies
Early research (Phase 1)Study completedNCT00986895What this trial is testingGlyceryl Tri-(4-phenylbutyrate) Administered Orally as a Single Dose, and Twice Daily for Seven Consecutive Days to Subjects With Hepatic Impairment With Cirrhosis and to a Control GroupWho this might be right forHepatic EncephalopathyUrea Cycle Disorders Amgen 32
Testing effectiveness (Phase 2)WithdrawnNCT01341379What this trial is testingIncreasing Ureagenesis in Inborn Errors of Metabolism With N-CarbamylglutamateWho this might be right forUrea Cycle Disorders, InbornInborn Errors of MetabolismPropionic Acidemia+2 more Children's Hospital of Philadelphia
Not applicableStudy completedNCT02053896What this trial is testingA Switch-Over Study of the Safety and Efficacy of ISU302 in Patients With Type 1 Gaucher DiseaseWho this might be right forGaucher Disease ISU Abxis Co., Ltd. 5
Not applicableWithdrawnNCT04272736What this trial is testingPKU Low Calorie Drink StudyWho this might be right forPhenylketonuriasHyperphenylalaninaemia Nutricia UK Ltd
Not applicableLooking for participantsNCT03789721What this trial is testingAdrenoleukodystrophy National Registry StudyWho this might be right forALD (Adrenoleukodystrophy)AdrenoleukodystrophyCerebral Adrenoleukodystrophy Masonic Cancer Center, University of Minnesota 1,000
Large-scale testing (Phase 3)Looking for participantsNCT06302348What this trial is testingSepiapterin in Participants With Phenylketonuria (PKU)Who this might be right forPhenylketonuria PTC Therapeutics 56
Testing effectiveness (Phase 2)Study completedNCT01339884What this trial is testingResveratrol as Treatment for Friedreich AtaxiaWho this might be right forFriedreich Ataxia Murdoch Childrens Research Institute 27
Not applicableLooking for participantsNCT07382128What this trial is testingMyocardial Perfusion CMR for Differentiating and Characterizing Hypertrophic Cardiomyopathy PhenotypesWho this might be right forHCM - Hypertrophic CardiomyopathyAnderson Fabry DiseaseCardiac Magnetic Resonance Imaging+1 more IRCCS Azienda Ospedaliero-Universitaria di Bologna 250
Not applicableUnknownNCT04032639What this trial is testingStress and Brain Response Using MEG in PWSWho this might be right forPrader-Willi Syndrome The Hospital for Sick Children 48
Large-scale testing (Phase 3)Ended earlyNCT04378075What this trial is testingEvaluate Efficacy and Safety of Vatiquinone for Treating Mitochondrial Disease in Participants With Refractory EpilepsyWho this might be right forMitochondrial DiseasesDrug Resistant EpilepsyLeigh Disease+5 more PTC Therapeutics 68
Testing effectiveness (Phase 2)Ended earlyNCT02898753What this trial is testingVAL-1221 Delivered Intravenously in Ambulatory and Ventilator-free Participants With Late-Onset Pompe DiseaseWho this might be right forPompe Disease Valerion Therapeutics, LLC 12
Not applicableUnknownNCT04055831What this trial is testingImmune Biomarkers Related to Bone Pathology in Patients With Type 1 Gaucher DiseaseWho this might be right forGaucher Disease Type 1 Lysosomal and Rare Disorders Research and Treatment Center, Inc. 40
Testing effectiveness (Phase 2)UnknownNCT06114329What this trial is testingStudy of the Safety and Biologic Activity of AL01211 in Treatment Naive Males With Classic Fabry DiseaseWho this might be right forFabry Disease AceLink Therapeutics, Inc. 16