Not applicableStudy completedNCT07285369What this trial is testingHigh-Dose Ambroxol in Pediatric Type III Gaucher Disease (GD3)Who this might be right forGaucher Disease, Type 3 Agyany Pharma LTD 12
Not applicableLooking for participantsNCT07758816What this trial is testingAdvancing Integrated Therapies for Gaucher DiseaseWho this might be right forGaucher Disease Yale University 30
Not applicableStudy completedNCT03858101What this trial is testingSNAP: Study Nutrients in Adult PKUWho this might be right forPhenylketonuria Nutricia Research 71
Not applicableEnded earlyNCT03321604What this trial is testingKidney Information Network for Disease Research and EducationWho this might be right forESRDFabry DiseaseRare Diseases+3 more Massachusetts General Hospital 338
Not applicableNo Longer AvailableNCT01461304What this trial is testingCompassionate Use of Triheptanoin (C7) for Inherited Disorders of Energy MetabolismWho this might be right forVery Long-chain acylCoA Dehydrogenase (VLCAD) DeficiencyCarnitine Palmitoyltransferase Deficiencies (CPT1, CPT2)Mitochondrial Trifunctional Protein Deficiency+5 more Jerry Vockley, MD, PhD
Not applicableUnknownNCT04969809What this trial is testingComparison of Atherogenic Risk Factors and Efficacy of Nutritional Treatment Among Adult Phenylketonuria PatientsWho this might be right forPhenylketonuriasNutritional and Metabolic Diseases University Medical Centre Ljubljana 50
Testing effectiveness (Phase 2)Ended earlyNCT01465100What this trial is testingLiver Cell Transplant for PhenylketonuriaWho this might be right forPhenylketonuria Ira Fox 1
Not applicableStudy completedNCT06762509What this trial is testingThe Clinical Study of Botulinum Toxin Type A Injection in the Treatment of Wilson DiseaseWho this might be right forWilson Disease The First Affiliated Hospital of Anhui University of Traditional Chinese Medicine 60
Early research (Phase 1)Study completedNCT00357786What this trial is testingAn Open-Label Maintenance Study of the Enzyme Replacement Therapy Replagal in Patients With Fabry DiseaseWho this might be right forFabry Disease National Institute of Neurological Disorders and Stroke (NINDS) 3
Not applicableStudy completedNCT00233870What this trial is testingA Long Term Safety and Efficacy Study of Fabrazyme Replacement Therapy in Japanese Patients With Fabry Disease.Who this might be right forFabry Disease Genzyme, a Sanofi Company 405
Not applicableStudy completedNCT03771391What this trial is testingA 16 Week Study Evaluating the Introduction of a GMP Based Protein Substitute in Participants With PKUWho this might be right forPhenylketonurias Vitaflo International, Ltd 15
Not applicableStudy completedNCT05062226What this trial is testingGMP Case Studies of Tolerance, Safety and Acceptability in PKU and TYRWho this might be right forPKUTyrosinemias Nutricia UK Ltd 45
Post-approval studies (Phase 4)Study completedNCT02733679What this trial is testingResponse of Individuals With Ataxia-Telangiectasia to Metformin and PioglitazoneWho this might be right forAtaxia-Telangiectasia NHS Tayside 27
Not applicableLooking for participantsNCT02435940What this trial is testingInherited Retinal Degenerative Disease RegistryWho this might be right forEye Diseases HereditaryRetinal DiseaseAchromatopsia+25 more Foundation Fighting Blindness 20,000
Testing effectiveness (Phase 2)Not Yet RecruitingNCT06990984What this trial is testingA Dose-ranging Study of TTI-0102 in Adults and Children With Leigh Syndrome Spectrum (LSS)Who this might be right forLeigh Syndrome Thiogenesis Therapeutics, Inc. 18
Not applicableUnknownNCT05473325What this trial is testingBenchtop NMR Spectroscopy for Assessment of Clinical Human Pathologies (BRANCH-P STUDY)Who this might be right forDiabetesChronic Kidney DiseasesCancer+25 more Willows Health 2,000
Early research (Phase 1)Study completedNCT01898884What this trial is testingSafety and Pharmacology Study of VP 20629 in Adults With Friedreich's AtaxiaWho this might be right forFriedreich's Ataxia Shire 46
Not applicableStudy completedNCT03867526What this trial is testingEstablishment of Human Cellular Disease Models for Wilson DiseaseWho this might be right forWilson Disease CENTOGENE GmbH Rostock 40
Early research (Phase 1)Study completedNCT00316498What this trial is testingSaccadic Eye Movements in Patients With Niemann-Pick Type C DiseaseWho this might be right forNiemann Pick Diseases National Eye Institute (NEI) 30
Not applicableWithdrawnNCT05277363What this trial is testingThe Natural Course of SURF1 DeficiencyWho this might be right forLeigh Syndrome Taysha Gene Therapies, Inc.