Not applicableUnknownNCT01898325What this trial is testingAssessment Of Liver and Spleen Fibrosis in Patients With Gaucher Disease Using FibroscanWho this might be right forFibrosis Rambam Health Care Campus 40
Not applicableActive Not RecruitingNCT05526664What this trial is testingOmics Gaucher Study: Multiomic ApproachWho this might be right forGaucher Disease CENTOGENE GmbH Rostock 25
Not applicableWithdrawnNCT01650909What this trial is testingThe Effects of Sapropterin Dihydrochloride Supplementation on in Vivo Redox Status in Patients With Classical PKUWho this might be right forClassical Phenylketonuria(PKU) Stanford University
Testing effectiveness (Phase 2)Study completedNCT03516487What this trial is testingSafety and Tolerability of SYNB1618 in Healthy Adult Volunteers and Adult Subjects With PhenylketonuriaWho this might be right forPhenylketonuriaHealthy Synlogic 70
Testing effectiveness (Phase 2)Not Yet RecruitingNCT07173933What this trial is testingPhase I/II Clinical Study to Evaluate the Safety, Tolerability, and Efficacy of GC310 Injection in Patients With Wilson's Disease (WD)Who this might be right forWilson Disease GeneCradle Inc 15
Early research (Phase 1)Study completedNCT02536911What this trial is testingThe Effects of Hepatic Impairment on the Pharmacokinetics and Tolerability of Eliglustat TartrateWho this might be right forGaucher Disease Genzyme, a Sanofi Company 24
Not applicableLooking for participantsNCT06933212What this trial is testingEffect of the Mediterranean Diet in Patients Affected by CADASIL and Cerebral Amyloid Angiopathy.Who this might be right forCerebral Amyloid AngiopathyCAA - Cerebral Amyloid Angiopathy Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta 86
Not applicableStudy completedNCT03432871What this trial is testingNicotinamide Riboside and Mitochondrial BiogenesisWho this might be right forMitochondrial DiseasesMitochondrial MyopathiesProgressive External Ophthalmoplegia+4 more Cambridge University Hospitals NHS Foundation Trust 13
Not applicableStudy completedNCT00728364What this trial is testingAnderson-Fabry Disease in Chronic Kidney Disease Patients Not on Renal Replacement TherapyWho this might be right forFocus of Study: Prevalence of Fabry Disease in CKD Population Klinikum Wels-Grieskirchen 4,353
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
Not applicableStudy completedNCT06539598What this trial is testingRespiratory Training in Friedreich's AtaxiaWho this might be right forFriedreich Ataxia University of Florida 1
Testing effectiveness (Phase 2)Ended earlyNCT03746587What this trial is testingStudy of Arimoclomol in Patients Diagnosed With Gaucher Disease Type 1 or 3Who this might be right forGaucher Disease, Type 1Gaucher Disease, Type 3 ZevraDenmark 39
Not applicableStudy completedNCT05083806What this trial is testingMSOT in Pompe DiseaseWho this might be right forPompe DiseasePompe Disease (Late-onset)Pompe's Disease Juvenile Onset+1 more University of Erlangen-Nürnberg Medical School 20
Not applicableNot Yet RecruitingNCT07241832What this trial is testingMultifaceted Assessment of Patients With Wilson's Disease in a Low-Resource Setting in Upper Egypt: Service Integration, Psychosocial Burden, Dietary Practices, and the Geo-Spatial Disease MapWho this might be right forWilson's Disease Assiut University 66
Testing effectiveness (Phase 2)Study completedNCT00391625What this trial is testingOpen-Label Extension Study Evaluating Long Term Safety in Patients With Type 1 Gaucher Disease Receiving DRX008A (ERT)Who this might be right forGaucher Disease Shire 10
Large-scale testing (Phase 3)Study completedNCT03566017What this trial is testingOpen Label Extension Study of 1 mg/kg Pegunigalsidase Alfa Every 2 Weeks in Patients With Fabry DiseaseWho this might be right forFabry Disease Chiesi Farmaceutici S.p.A. 97
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
Testing effectiveness (Phase 2)Looking for participantsNCT05768035What this trial is testingSafety and Efficacy of SMART101 in Adult Patients With Hematological Malignancies After Haploidentical HSCT With Post-transplant CyclophosphamideWho this might be right forHematological Malignancies Smart Immune SAS 40
Not applicableEnded earlyNCT01904708What this trial is testingModerate Intensity Exercise and PhenylketonuriaWho this might be right forPhenylketonuriaPKU Oregon Health and Science University 2
Not applicableLooking for participantsNCT06573723What this trial is testingInstitutional Registry of Rare DiseasesWho this might be right forRare DiseasesAmyloidosisSarcoidosis+23 more Hospital Italiano de Buenos Aires 380