Not applicableLooking for participantsNCT00359684What this trial is testingUse of Cysteamine in the Treatment of CystinosisWho this might be right forCystinosis National Human Genome Research Institute (NHGRI) 330
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 completedNCT02262338What this trial is testingSafety and Dose Ranging Study of Insulin Receptor MoAb-IDS Fusion Protein in Patients With Hunter SyndromeWho this might be right forMucopolysaccharidosis II ArmaGen, Inc 6
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
Testing effectiveness (Phase 2)Study completedNCT03350451What this trial is testingAn Extension Study of an Investigational Drug, Lumasiran (ALN-GO1), in Participants With Primary Hyperoxaluria Type 1Who this might be right forPH1Primary HyperoxaluriaRNAi Therapeutic+2 more Alnylam Pharmaceuticals 20
Not applicableStudy completedNCT00531037What this trial is testingNatural Evolution of AV Conduction Disorders in Patients Implanted With Cardiac PacemakersWho this might be right forPatients Implanted With a Pacemaker LivaNova 1,440
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 completedNCT03292887What this trial is testingHunter Outcome Survey (HOS)Who this might be right forHunter Syndrome Shire 1,443
Testing effectiveness (Phase 2)Study completedNCT01126814What this trial is testingImatinib With Reinduction Chemotherapy Using Mitoxantrone, Etoposide and Cytarabine in Patients With Relapsed/Refractory C-kit Positive (AML) Acute Myeloid LeukemiaWho this might be right forLeukemia University Health Network, Toronto 35
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
Testing effectiveness (Phase 2)Study completedNCT00879034What this trial is testingZoledronic Acid, Pravastatin, and Lonafarnib for Patients With ProgeriaWho this might be right forProgeriaHutchinson-Gilford Syndrome Boston Children's Hospital 5
Testing effectiveness (Phase 2)Looking for participantsNCT05994534What this trial is testingPK and PD Study of NPI-001 and Cysteamine BitartrateWho this might be right forCystinosis Nacuity Pharmaceuticals, Inc. 12
Testing effectiveness (Phase 2)Looking for participantsNCT04941599What this trial is testing2-Hydroxybenzylamine (2-HOBA) to Reduce HDL Modification and Improve HDL Function in Familial Hypercholesterolemia (FH)Who this might be right forFamilial Hypercholesterolemia Vanderbilt University Medical Center 72
Not applicableStudy completedNCT01625663What this trial is testingHeart and Muscle Metabolism in Barth SyndromeWho this might be right forBarth Syndrome Duke University 64