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
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
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)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)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
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
Large-scale testing (Phase 3)Looking for participantsNCT07236606What this trial is testingRGX-121-3102 Gene Therapy in Participants With MPS II (Hunter Syndrome)Who this might be right forMPS IIHunter Syndrome (MPS II) REGENXBIO Inc. 2
Not applicableEnded earlyNCT01733615What this trial is testingDiscovering New Biomarkers For Monitoring Disease Progression in Patients With Mucopolysaccharidosis IVAWho this might be right forMucopolysaccharidosis Type IVA Emory University 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 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
Not applicableLooking for participantsNCT00358943What this trial is testingInternational Collaborative Gaucher Group (ICGG) Gaucher Disease Registry & Pregnancy Sub-registryWho this might be right forGaucher DiseaseCerebroside Lipidosis SyndromeGlucocerebrosidase Deficiency Disease+1 more Genzyme, a Sanofi Company 12,000
Not applicableUnknownNCT05679076What this trial is testingA Qualitative Study on the Pain and Quality of Life of Patients With Fabry DiseaseWho this might be right forFabry Disease Yonsei University 10
Not applicableStudy completedNCT00001289What this trial is testingEffects of Enzyme Replacement in Gaucher's DiseaseWho this might be right forGaucher's Disease National Institute of Neurological Disorders and Stroke (NINDS) 70
Not applicableStudy completedNCT05545774What this trial is testingNeuromuscular Characterisation in Late Adolescent and Adult Cystinosis PatientsWho this might be right forCystinosis Assistance Publique - Hôpitaux de Paris 20