Not applicableStudy completedNCT04916977What this trial is testingGlobal Burden and Treatment Trajectiories in Italian Patients With Fabry DiseaseWho this might be right forFabry Disease Chiesi Italia 200
Not applicableStudy completedNCT05200702What this trial is testingAssessment of Safety and Acute Effects of a Knee-hip Powered Soft Exoskeleton in Patients With Neuromuscular DisordersWho this might be right forMuscular DystrophiesCongenital MyopathyIdiopathic Inflammatory Myopathies+2 more Institut de Myologie, France 32
Large-scale testing (Phase 3)Active Not RecruitingNCT05680818What this trial is testingEfficacy and Safety of Encaleret Compared to Standard of Care in Participants With ADH1Who this might be right forAutosomal Dominant Hypocalcemia (ADH) Calcilytix Therapeutics, Inc., a BridgeBio company 67
Not applicableStudy completedNCT05400278What this trial is testingCharacterizing the Genotype and Phenotype in Adults With Bardet-Biedl SyndromeWho this might be right forBardet-Biedl Syndrome Oslo University Hospital 30
Not applicableStudy completedNCT02792790What this trial is testingCarpal Tunnel Syndrome and Amyloid CardiomyopathyWho this might be right forAmyloidosisCardiomyopathyTransthyretin Amyloidosis+2 more The Cleveland Clinic 96
Large-scale testing (Phase 3)Study completedNCT01889862What this trial is testingPhase 3 Study to Evaluate the Efficacy & Safety of Self-Administered Injections of BMN165 by Adults With PKUWho this might be right forPhenylketonuria (PKU) BioMarin Pharmaceutical 215
Not applicableUnknownNCT05452850What this trial is testingLongitudinal Changes in Left and Right Ventricular Global Strain After Chemotherapy in Cardiac Light Chain AmyloidosisWho this might be right forAmyloid CardiomyopathyCongestive Heart FailureChemotherapy Effect Istanbul University - Cerrahpasa 30
Not applicableEnrolling By InvitationNCT06330324What this trial is testingReproductive Options in Inherited Skin DiseasesWho this might be right forIchthyosisPalmoplantar KeratosesEpidermolysis Bullosa+7 more Maastricht University Medical Center 650
Not applicableLooking for participantsNCT07314268What this trial is testingATTR Amyloid Cardiomyopathy: Characterization of Extracellular Vesicles as Potential Disease Stratifiers and Prognostic BiomarkersWho this might be right forWild-type ATTR AmyloidosisAmyloidosis CardiacAmyloidosis, Hereditary+1 more University of Sao Paulo General Hospital 70
Not applicableUnknownNCT02044692What this trial is testingThe Long-term Safety Study of Idursulfase-beta in Hunter Syndrome(Mucopolysaccharidosis II) PatientsWho this might be right forHunter Syndrome Green Cross Corporation 34
Early research (Phase 1)Study completedNCT02750709What this trial is testingBioequivalence Study of Two Nitisinone Formulations Compared to OrfadinWho this might be right forHereditary Tyrosinemia, Type I Cycle Pharmaceuticals Ltd. 24
Very early researchNot Yet RecruitingNCT06178432What this trial is testingEvaluation of the Safety, Tolerability and Efficacy of Gene Therapy Drug for Late Onset Pompe Disease (LOPD)Who this might be right forPompe Disease (Late-onset) Huashan Hospital 6
Not applicableStudy completedNCT02218632What this trial is testingGlycosylation in Patients With GalactosaemiaWho this might be right forClassical Galactosaemia Children's University Hospital, Ireland 26
Not applicableStudy completedNCT06257901What this trial is testingA Co-designed Physical Activity Intervention in Fabry DiseaseWho this might be right forFabry Disease Brunel University 41
Early research (Phase 1)WithdrawnNCT06483802What this trial is testingASP2016 in Adults Who Have Heart Disease Associated With Friedreich AtaxiaWho this might be right forFriedreich AtaxiaCardiomyopathy Astellas Gene Therapies
Early research (Phase 1)Study completedNCT00986895What this trial is testingGlyceryl Tri-(4-phenylbutyrate) Administered Orally as a Single Dose, and Twice Daily for Seven Consecutive Days to Subjects With Hepatic Impairment With Cirrhosis and to a Control GroupWho this might be right forHepatic EncephalopathyUrea Cycle Disorders Amgen 32
Early research (Phase 1)Not Yet RecruitingNCT07258667What this trial is testingPilot Study of the Efficacy of Nicotinamide (Vitamin B3) in Leber's Hereditary Optic NeuropathyWho this might be right forLeber Hereditary Optic Neuropathy (LHON)Leber's Hereditary Optic Neuropathy (LHON)Mitochondrial Disease+1 more University Hospital, Angers 13
Early research (Phase 1)Active Not RecruitingNCT06461286What this trial is testingSAD of IVT PYC-001 in OPA1 Mutation-Associated Autosomal Dominant Optic Atrophy (Sundew)Who this might be right forOPA1 Gene MutationAutosomal Dominant Optic AtrophyHereditary Optic Atrophies+1 more PYC Therapeutics 18
Not applicableStudy completedNCT04556500What this trial is testingTurkish Version of the Affordance in the Home Environment for Motor Development-Toddler (AHEMD-T)Who this might be right forMusculoskeletal DiseasesGenetic DiseaseMetabolic Disease+1 more Hacettepe University 139
Testing effectiveness (Phase 2)WithdrawnNCT01341379What this trial is testingIncreasing Ureagenesis in Inborn Errors of Metabolism With N-CarbamylglutamateWho this might be right forUrea Cycle Disorders, InbornInborn Errors of MetabolismPropionic Acidemia+2 more Children's Hospital of Philadelphia