Not applicableEnded earlyNCT01067742What this trial is testingThe Natural History of Mucolipidosis Type IVWho this might be right forMucolipidosis Type IV Baylor Research Institute 7
Not applicableStudy completedNCT02141503What this trial is testingClinical Biomarkers in Alpha-mannosidosisWho this might be right forAlpha-Mannosidosis Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) 11
Not applicableNot Yet RecruitingNCT07666269What this trial is testingMorphology in Oral Rare Syndromes & Artificial Intelligence for Clinical DiagnosisWho this might be right forOsteogenesis ImperfectaRare Bone DisordersHypophosphatemia+6 more University Hospital, Bordeaux 240
Not applicableStudy completedNCT06064656What this trial is testingA Non-Interventional Study of Clinical Characteristics and Mortality of US Patients With Fibrodysplasia Ossificans Progressiva (FOP)Who this might be right forFibrodysplasia Ossificans Progressiva (FOP) Regeneron Pharmaceuticals 131
Not applicableStudy completedNCT01268241What this trial is testingThe Efficacy and Safety of Switch Between Agalsidase Beta to Agalsidase Alfa for Enzyme Replacement in Patients With Anderson-Fabry DiseaseWho this might be right forFabry DiseaseFabry´s DiseaseAnderson-Fabry Disease CENTOGENE GmbH Rostock 200
Not applicableLooking for participantsNCT04880356What this trial is testingLongitudinal Study of Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases.Who this might be right forInherited DiseaseRare DiseasesMetabolic Disease+3 more Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta 100
Not applicableActive Not RecruitingNCT06488261What this trial is testingLong Term Follow-Up for Safety of AVR-RD-02Who this might be right forGaucher Disease John Bernat 2
Not applicableUnknownNCT03227042What this trial is testingA Prospective Natural History Study of Mucopolysaccharidosis Type IIIB (MPS IIIB)Who this might be right forMucopolysaccharidosis Type IIIB Allievex Corporation 44
Testing effectiveness (Phase 2)Study completedNCT01678898What this trial is testingDose-ranging Study of PRX-102 in Adult Fabry Disease PatientsWho this might be right forFabry Disease Protalix 18
Post-approval studies (Phase 4)Study completedNCT05054387What this trial is testingChina Post-marketing Surveillance (PMS) Study of Fabrazyme®Who this might be right forFabry Disease Genzyme, a Sanofi Company 22
Not applicableStudy completedNCT00055016What this trial is testingRegistry of Fabry Disease - A Multicenter Observational StudyWho this might be right forFabry Disease National Institute of Neurological Disorders and Stroke (NINDS) 100
Not applicableStudy completedNCT02765828What this trial is testingIdentification of Tongue Involvement in Late-Onset Pompe DiseaseWho this might be right forMyopathyNeuropathyGlycogen Storage Disease Type II (Late-onset Pompe Disease) Duke University 73
Testing effectiveness (Phase 2)Study completedNCT02583672What this trial is testingRole of Oxidative Stress and Inflammation in Type 1 Gaucher Disease (GD1)Who this might be right forGaucher Disease Type 1 University of Minnesota 33
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
Not applicableWithdrawnNCT01425489What this trial is testingBiomarker for Krabbe Disease (BioKrabbe)Who this might be right forKrabbe Disease CENTOGENE GmbH Rostock
Not applicableLooking for participantsNCT07319091What this trial is testingCystinosis and Mitochondrial MetabolismWho this might be right forCystinosisNative Kidney Hospices Civils de Lyon 25
Large-scale testing (Phase 3)Enrolling By InvitationNCT06075537What this trial is testingAn Extension Study of the Long-Term Safety, Tolerability, and Efficacy of Tividenofusp Alfa (DNL310) in Participants With Mucopolysaccharidosis Type II (MPS II) From Study DNLI-E-0002 or Study DNLI-E-0007Who this might be right forMucopolysaccharidosis II Denali Therapeutics Inc. 99
Large-scale testing (Phase 3)Active Not RecruitingNCT05208281What this trial is testingA Multi-cohort Study of Safety, Efficacy, PK and PD of GNR-055 in Patients With Mucopolysaccharidosis Type IIWho this might be right forMucopolysaccharidosis Type IIMetabolic Diseases AO GENERIUM 32
Not applicableUnknownNCT05719337What this trial is testingMulti-Modality Echocardiographic Techniques in Pathological Left Ventricular Hypertrophy AdultsWho this might be right forLeft Ventricular Hypertrophy First Hospital of China Medical University 660
Testing effectiveness (Phase 2)Ended earlyNCT01609062What this trial is testingSafety and Exercise Study of Two Doses of BMN 110 for Morquio A SyndromeWho this might be right forMucopolysaccharidosis IVAMorquio A SyndromeMPS IVA BioMarin Pharmaceutical 25