Not applicableStudy completedNCT02851862What this trial is testingA Natural History of Late Onset Tay-Sachs DiseaseWho this might be right forGM2 Gangliosidosis Massachusetts General Hospital 10
Testing effectiveness (Phase 2)Study completedNCT00283959What this trial is testingA 12-Week Safety and Pharmacodynamic Study of AT1001 (Migalastat Hydrochloride) in Participants With Fabry DiseaseWho this might be right forFabry Disease Amicus Therapeutics 4
Testing effectiveness (Phase 2)Study completedNCT03580122What this trial is testingThe Effect of Arginine on Classic GalactosemiaWho this might be right forClassic Galactosemia Academisch Ziekenhuis Maastricht 4
Not applicableUnknownNCT04388969What this trial is testingWorld Data on Ambroxol for Patients With GD and GBA Related PDWho this might be right forGaucher DiseaseParkinson DiseaseGBA Gene Mutation Shaare Zedek Medical Center 300
Not applicableLooking for participantsNCT06094205What this trial is testingFeasibility of the BrainGate2 Neural Interface System in Persons With Tetraplegia (BG-Speech-02)Who this might be right forAnarthriaDysarthriaTetraplegia+5 more Leigh R. Hochberg, MD, PhD. 2
Not applicableStudy completedNCT04353466What this trial is testingAssessing the Impact of Elelyso on Bone Involvement Currently Treated With Other ERTsWho this might be right forGaucher Disease, Type 1 Shaare Zedek Medical Center 30
Not applicableWithdrawnNCT02385162What this trial is testingBiomarker for Glycogen Storage Diseases (BioGlycogen)Who this might be right forFructose Metabolism, Inborn ErrorsGlycogen Storage DiseaseGlycogen Storage Disease Type I+7 more CENTOGENE GmbH Rostock
Testing effectiveness (Phase 2)Study completedNCT00925054What this trial is testingDose-Finding Study to Evaluate the Safety, Efficacy, & Tolerability of Multiple Doses of rAvPAL-PEG in Subjects With PKUWho this might be right forPhenylketonuria BioMarin Pharmaceutical 40
Large-scale testing (Phase 3)Study completedNCT02319005What this trial is testingENDEAVOUR: Phase 3 Multicenter Study of Revusiran (ALN-TTRSC) in Patients With Transthyretin (TTR) Mediated Familial Amyloidotic Cardiomyopathy (FAC)Who this might be right forTransthyretin (TTR) Mediated Familial Amyloidotic Cardiomyopathy (FAC)Amyloidosis, HereditaryAmyloid Neuropathies, Familial+3 more Alnylam Pharmaceuticals 206
Testing effectiveness (Phase 2)Ended earlyNCT01195753What this trial is testingHuman Heterologous Liver Cells for Infusion in Children With Urea Cycle DisordersWho this might be right forUrea Cycle Disorders Cytonet GmbH & Co. KG 10
Large-scale testing (Phase 3)Study completedNCT00697073What this trial is testingStudy to Assess the Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia PatientsWho this might be right forFriedreich's Ataxia Santhera Pharmaceuticals 68
Not applicableNot Yet RecruitingNCT06258577What this trial is testingScreening for Gaucher Disease and Acid Sphingomyelinase DeficiencyWho this might be right forGaucher Disease Chung-Hsing Wang 50
Large-scale testing (Phase 3)Study completedNCT01422187What this trial is testingExtension Study of Taliglucerase Alfa in Adult Subjects With Gaucher DiseaseWho this might be right forGaucher Disease Pfizer 19
Early research (Phase 1)WithdrawnNCT01787578What this trial is testingSafety and Pharmacodynamic Study of Sobetirome in X-Linked Adrenoleukodystrophy (X-ALD)Who this might be right forX-Linked AdrenoleukodystrophyAdrenomyeloneuropathy Thomas S. Scanlan
Not applicableNo Longer AvailableNCT02084121What this trial is testingAllogeneic Stem Cell Transplantation for the Treatment of Multiple Sclerosis (Compassionate Use)Who this might be right forMetachromatic Leukodystrophy Talaris Therapeutics Inc.
Not applicableStudy completedNCT01931644What this trial is testingAt-Home Research Study for Patients With Autoimmune, Inflammatory, Genetic, Hematological, Infectious, Neurological, CNS, Oncological, Respiratory, Metabolic ConditionsWho this might be right forAll Diagnosed Health ConditionsADD/ADHDAlopecia Areata+58 more Sanguine Biosciences 17,667
Early research (Phase 1)Not Yet RecruitingNCT06735638What this trial is testingOutside the Cage (OTC) Robotic EsophagectomyWho this might be right forEsophageal Cancer Centre hospitalier de l'Université de Montréal (CHUM) 31
Not applicableStudy completedNCT02719249What this trial is testingFabry Disease Screening in ESRD Patients in West of FranceWho this might be right forESRD Rennes University Hospital 500
Testing effectiveness (Phase 2)Study completedNCT00924703What this trial is testingLong-Term Extension of Previous rAvPAL-PEG Protocols in Subjects With PKU (PAL-003)Who this might be right forPhenylketonuria BioMarin Pharmaceutical 68
Early research (Phase 1)Not Yet RecruitingNCT06772870What this trial is testingA Single Ascending Dose Study of DT-216P2 in Normal Healthy ParticipantsWho this might be right forFriedreich Ataxia Design Therapeutics, Inc. 36