Not applicableStudy completedNCT01295008What this trial is testingAndrogenetic Alopecia in Fabry DiseaseWho this might be right forFabry Disease Baylor Research Institute 107
Not applicableNot Yet RecruitingNCT06698991What this trial is testingDaily Versus Alternate Day Plasma Exchange in Wilson Disease With Acute Liver Failure in ChildrenWho this might be right forAcute Liver FailureWilson Disease Institute of Liver and Biliary Sciences, India 20
Large-scale testing (Phase 3)Study completedNCT02004691What this trial is testingEfficacy, Safety, Pharmacodynamic, and Pharmacokinetics Study of Olipudase Alfa in Patients With Acid Sphingomyelinase DeficiencyWho this might be right forSphingomyelin Lipidosis Genzyme, a Sanofi Company 36
Not applicableStudy completedNCT01710813What this trial is testingAlglucosidase Alfa Pompe Safety Sub-RegistryWho this might be right forPompe Disease Genzyme, a Sanofi Company 110
Not applicableStudy completedNCT02915510What this trial is testingGMP Drink for PKU StudyWho this might be right forPhenylketonuria Nutricia UK Ltd 40
Not applicableLooking for participantsNCT06669949What this trial is testingNatural History of Sphingosine Phosphate Lyase Insufficiency Syndrome (SPLIS)Who this might be right forSphingosine Phosphate Lyase Insufficiency Syndrome (SPLIS) University of California, San Francisco 28
Not applicableLooking for participantsNCT06813443What this trial is testingCharacterization of Patients With Cardiomyopathy to Identify Critical Patients Candidates for Cardiac TransplantationWho this might be right forCardiomyopathiesAmyloidosis CardiacFabry Disease+14 more IRCCS Azienda Ospedaliero-Universitaria di Bologna 700
Testing effectiveness (Phase 2)Active Not RecruitingNCT04884815What this trial is testingA Phase 1/2/3 Study of UX701 Gene Therapy in Adults With Wilson DiseaseWho this might be right forWilson Disease Ultragenyx Pharmaceutical Inc 82
Not applicableUnknownNCT00966017What this trial is testingGlucose Metabolic, Amyloid, and Tau Brain Imaging in Down Syndrome and DementiaWho this might be right forDown SyndromeAlzheimer's Disease National Institute on Aging (NIA) 108
Not applicableEnrolling By InvitationNCT04348708What this trial is testingLong-Term Follow Up Study of Subjects Previously Administered HMI 102Who this might be right forPhenylketonuriaPAH Deficiency Homology Medicines, Inc 21
Not applicableLooking for participantsNCT07187440What this trial is testingAgalsidase Alfa Enyzme Replacement Therapy in Chinese Children and Adults With Fabry DiseaseWho this might be right forFabry Disease Takeda 200
Not applicableActive Not RecruitingNCT02252380What this trial is testingExAblate Transcranial MRgFUS for the Management of Treatment-Refractory Movement DisordersWho this might be right forMovement DisordersEssential TremorHolmes Tremor+6 more InSightec 10
Testing effectiveness (Phase 2)Ended earlyNCT03933410What this trial is testingUNLOCKED: A Phase 2, Open-label Trial With KB195 in Subjects With a Urea Cycle DisorderWho this might be right forUrea Cycle Disorder Kaleido Biosciences 13
Early research (Phase 1)Looking for participantsNCT07685210What this trial is testingGenSci144 Tablets Phase I Clinical TrialWho this might be right forPhenylketonuria Changchun GeneScience Pharmaceutical Co., Ltd. 48
Early research (Phase 1)Study completedNCT00789568What this trial is testingEvaluate Effects of Sapropterin Dihydrochloride on QTc Intervals in Healthy Adult SubjectsWho this might be right forPhenylketonuria BioMarin Pharmaceutical 56
Very early researchUnknownNCT03957720What this trial is testingThe Individual Therapy for Patients With Wilson's DiseaseWho this might be right forWilson's Disease Second Affiliated Hospital, Zhejiang University, School of Medicine 400
Early research (Phase 1)Study completedNCT01881633What this trial is testingThe Tolerability, Safety, and Pharmacokinetics of ISU302 in Healthy VolunteersWho this might be right forGaucher Disease ISU Abxis Co., Ltd. 24
Large-scale testing (Phase 3)Study completedNCT02334748What this trial is testingCanakinumab in Patients With Systemic Juvenile Idiopathic Arthritis or Hereditary Periodic Fevers Who Participated in the CACZ885G2301E1, CACZ885G2306 or CACZ885N2301 StudiesWho this might be right forSystemic Juvenile Idiopathic ArthritisHereditary Periodic Fevers Novartis Pharmaceuticals 31
Not applicableActive Not RecruitingNCT07274826What this trial is testingDiagnostic Creteria of Acid Sphingomyelinase Deficiency (ASMD)Who this might be right forAcid Sphingomyelinase Deficiency (ASMD) Sohag University 7
Testing effectiveness (Phase 2)Study completedNCT03734263What this trial is testingUse of Phenylbutyrate Therapy for Patients With Pyruvate Dehydrogenase Complex Deficiency.Who this might be right forPyruvate Dehydrogenase Complex Deficiency Fondazione Telethon 1