Not applicableUnknownNCT05056636What this trial is testingEpidemiological Study of Fabry Disease Screening in Chronic Kidney Disease PatientsWho this might be right forFabry Disease Chang Gung Memorial Hospital 2,000
Testing effectiveness (Phase 2)Study completedNCT01871285What this trial is testingEvaluation of the Tolerability of Switching Subjects on Chronic ATC Opioid Therapy to Buprenorphine HCl Buccal FilmWho this might be right forPain BioDelivery Sciences International 39
Testing effectiveness (Phase 2)Study completedNCT05168774What this trial is testingFRDA Investigator Initiated Study (IIS) With ElamipretideWho this might be right forFriedreich Ataxia Children's Hospital of Philadelphia 20
Testing effectiveness (Phase 2)Study completedNCT00074958What this trial is testingFabrazyme in Pediatric Patients With Fabry DiseaseWho this might be right forFabry Disease Genzyme, a Sanofi Company 16
Not applicableActive Not RecruitingNCT06663878What this trial is testingAn Exploratory Study to Evaluate the Tolerability and Safety of MWAV201 in Subjects With Wilson DiseaseWho this might be right forWilson Disease Xinhua Hospital, Shanghai Jiao Tong University School of Medicine 9
Early research (Phase 1)Ended earlyNCT00952601What this trial is testingPilot Study of the Modified Atkins Diet for Tourette SyndromeWho this might be right forTourette Syndrome Johns Hopkins University 20
Not applicableUnknownNCT01594541What this trial is testingA Retrospective Analysis of Cerefolin NAC® in Cognitively Impaired PatientsWho this might be right forMild Cognitive Impairment Pamlab, Inc. 700
Large-scale testing (Phase 3)Active Not RecruitingNCT04283227What this trial is testingOTL-200 in Patients With Late Juvenile Metachromatic Leukodystrophy (MLD)Who this might be right forLysosomal Storage DiseasesMetachromatic Leukodystrophy Orchard Therapeutics 6
Not applicableStudy completedNCT01701154What this trial is testingThe Effects of Respiratory Muscle Strength Training (RMST) on Inspiratory and Expiratory Muscle Strength in Adults and Children With Pompe DiseaseWho this might be right forPompe Disease Duke University 11
Not applicableLooking for participantsNCT06430359What this trial is testingCircadian Variation of Urinary Copper Excretion in Wilson Disease PatientsWho this might be right forWilson Disease Hospices Civils de Lyon 30
Not applicableStudy completedNCT03856203What this trial is testingNutrition Status of Adults With PKU Before and During Treatment With PegvaliaseWho this might be right forPhenylketonurias Boston Children's Hospital 12
Not applicableEnded earlyNCT01948427What this trial is testingObservational Study That Will Collect Information on Patients With Urea Cycle Disorders (UCDs)Who this might be right forUrea Cycle Disorder Amgen 203
Not applicableUnknownNCT03309345What this trial is testingBody Composition, Energy Intake and Expenditure in People With PhenylketonuriaWho this might be right forPhenylketonuria (PKU) University of Glasgow 26
Early research (Phase 1)Study completedNCT02930655What this trial is testingAssess the Safety and Tolerability of Lucerastat in Subjects With Fabry DiseaseWho this might be right forFabry Disease Idorsia Pharmaceuticals Ltd. 14
Not applicableStudy completedNCT03625882What this trial is testingSurvey Study for Velaglucerase Alfa (VPRIV) in JapanWho this might be right forGaucher Disease Takeda 63
Not applicableStudy completedNCT04020913What this trial is testingSkeletal Muscle Effects of GH in BoysWho this might be right forGrowth Hormone DeficiencyIdiopathic Short Stature Nemours Children's Clinic 45
Early research (Phase 1)Ended earlyNCT05222178What this trial is testingSafety and Efficacy of HMI-103 in Participants With Classical PKU Due to PAH DeficiencyWho this might be right forPhenylketonuriasPAH DeficiencyPhenylketonuria Homology Medicines, Inc 3
Not applicableStudy completedNCT04368624What this trial is testingPKU Skin StrippingWho this might be right forPhenylketonurias Children's Hospital Medical Center, Cincinnati 86
Not applicableUnknownNCT01921868What this trial is testingAn Open-label Study of the Effects of Acetyl-L-Carnitine on Cardiovascular Outcomes in Friedreich's AtaxiaWho this might be right forFriedreich's Ataxia University of South Florida 20
Testing effectiveness (Phase 2)WithdrawnNCT01656590What this trial is testingHigh Protein and Exercise Therapy Plus Nocturnal Enteral Feeding in Juvenile-onset Pompe DiseaseWho this might be right forGlycogen Storage Disease Type II Columbia University