Not applicableStudy completedNCT06539598What this trial is testingRespiratory Training in Friedreich's AtaxiaWho this might be right forFriedreich Ataxia University of Florida 1
Not applicableStudy completedNCT03147664What this trial is testingCardiopulmonary Exercise Test to Quantify Enzyme Replacement Response in Pediatric Pompe DiseaseWho this might be right forEnzyme Replacement Therapy in Pompe Disease Rambam Health Care Campus 5
Testing effectiveness (Phase 2)Study completedNCT00196716What this trial is testingThe Safety and Efficacy of Fabrazyme in Patients With Fabry DiseaseWho this might be right forFabry Disease Genzyme, a Sanofi Company 21
Not applicableEnded earlyNCT02204904What this trial is testingObservational Study to Evaluate Allogeneic HSCT Outcomes for Cerebral Adrenoleukodystrophy (CALD)Who this might be right forX-Linked Adrenoleukodystrophy (X-ALD)Cerebral Adrenoleukodystrophy (CALD)Adrenoleukodystrophy (ALD) Genetix Biotherapeutics Inc. 59
Not applicableActive Not RecruitingNCT04929002What this trial is testingCarbon-13 Magnetic Resonance Spectroscopy in Glycogen Storage DiseasesWho this might be right forGlycogen Storage DiseaseMcArdle DiseasePompe Disease (Late-onset) Rigshospitalet, Denmark 50
Not applicableStudy completedNCT02124330What this trial is testingProtein Sorbent Properties of Montmorillonite in Vitro and in Vivo ModelsWho this might be right forUrea Cycle Disorders, InbornOther Metabolic Diseases Luca Ronfani 35
Large-scale testing (Phase 3)WithdrawnNCT00935753What this trial is testingTrial of Kuvan in Lesch-Nyhan DiseaseWho this might be right forBehavioral Manifestations of Lesch-Nyhan Disease University of California, San Diego
Not applicableLooking for participantsNCT05943002What this trial is testingPatient-reported, Health Economic and Psychosocial Outcomes in Friedreich AtaxiaWho this might be right forFriedreich Ataxia German Center for Neurodegenerative Diseases (DZNE) 200
Testing effectiveness (Phase 2)Ended earlyNCT04273269What this trial is testingA Safety and Efficacy Study of LYS-GM101 Gene Therapy in Patients With GM1 GangliosidosisWho this might be right forGM1 Gangliosidosis LYSOGENE 5
Post-approval studies (Phase 4)Study completedNCT00455195What this trial is testingLate-Onset Treatment Study Extension ProtocolWho this might be right forPompe Disease (Late-Onset)Glycogen Storage Disease Type II (GSD-II)Glycogenesis Type II+1 more Genzyme, a Sanofi Company 81
Large-scale testing (Phase 3)Looking for participantsNCT06451757What this trial is testingKHENERFIN Study: A Trial to Evaluate the Efficacy and Safety of Sonlicromanol in Primary Mitochondrial DiseasesWho this might be right forMitochondrial DiseasesMaternally Inherited Diabetes and Deafness (MIDD)Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like Episodes (MELAS)+1 more Khondrion BV 220
Testing effectiveness (Phase 2)Study completedNCT00250939What this trial is testingRhGAA in Patients With Late-Onset Pompe DiseaseWho this might be right forPompe Disease (Late-onset)Glycogen Storage Disease Type II (GSD-II)Acid Maltase Deficiency Disease+1 more Genzyme, a Sanofi Company 5
Testing effectiveness (Phase 2)Study completedNCT00004488What this trial is testingPhase II Randomized Study of Alendronate Sodium for Osteopenia in Patients With Gaucher's DiseaseWho this might be right forGaucher's DiseaseOsteopenia Children's Hospital Medical Center, Cincinnati 82
Not applicableStudy completedNCT03939052What this trial is testingProtein Requirements in Adults With Phenylketonuria (PKU)Who this might be right forPhenylketonuria University of British Columbia 6
Early research (Phase 1)Study completedNCT02939547What this trial is testingStudy of the Pharmacokinetics of Trappsol and Effects on Potential Biomarkers of Niemann-Pick C1 (NPC1)Who this might be right forNiemann-Pick Disease, Type C1 Cyclo Therapeutics, Inc. 13
Not applicableStudy completedNCT03631238What this trial is testingThe Dual Impact of Homocysteine and Cholesterol on Cognitive FunctionsWho this might be right forHypercholesterolemiaCognitive DysfunctionHyperhomocysteinemia Assiut University 41
Large-scale testing (Phase 3)Active Not RecruitingNCT05515536What this trial is testingAssess the Safety and Efficacy of Vatiquinone in Participants With Friedreich AtaxiaWho this might be right forFriedreich Ataxia PTC Therapeutics 130
Not applicableStudy completedNCT03847753What this trial is testingExploring the Comorbidity Between Mental Disorders and General Medical ConditionsWho this might be right forOrganic, Including Symptomatic, Mental DisordersSubstance UseSchizophrenia+38 more University of Aarhus 5,940,299
Not applicableStudy completedNCT03864029What this trial is testingRetrospective Observational Safety Effectiveness With Kuvan in hpAWho this might be right forTetrahydrobiopterin Deficiency BioMarin Pharmaceutical 26
Not applicableStudy completedNCT04916977What this trial is testingGlobal Burden and Treatment Trajectiories in Italian Patients With Fabry DiseaseWho this might be right forFabry Disease Chiesi Italia 200