Not applicableStudy completedNCT04081272What this trial is testingEffect of G6PD Deficiency on Red Blood Cell StorageWho this might be right forG6PD Deficiency Columbia University 40
Not applicableLooking for participantsNCT06967831What this trial is testingDrug Repurposing for Mitochondrial Disorders Using iPSCs Derived Neural CellsWho this might be right forLeigh Syndrome (Maternally Inherited, MILS)Leigh Syndrome (AR, AD, XR) Charite University, Berlin, Germany 80
Not applicableUnknownNCT04031287What this trial is testingRCDP Natural History StudyWho this might be right forRhizomelic Chondrodysplasia Punctata MED-LIFE DISCOVERIES LP 75
Post-approval studies (Phase 4)UnknownNCT04419363What this trial is testingBurosumab in Children and Adolescents With X-linked HypophosphatemiaWho this might be right forRare DiseasesX-linked Hypophosphatemia Bicetre Hospital 57
Testing effectiveness (Phase 2)Study completedNCT00519363What this trial is testingStatins and Lupus: Effects of Statins on Clinical Lupus Parameters, Serological Markers and Toll-like ReceptorsWho this might be right forSystemic Lupus Erythematosus The Center for Rheumatic Disease, Allergy, & Immunology 15
Not applicableLooking for participantsNCT03789721What this trial is testingAdrenoleukodystrophy National Registry StudyWho this might be right forALD (Adrenoleukodystrophy)AdrenoleukodystrophyCerebral Adrenoleukodystrophy Masonic Cancer Center, University of Minnesota 1,000
Not applicableEnded earlyNCT02345421What this trial is testingIdentify and Characterize LAL-D Patients in High-risk PopulationsWho this might be right forLysosomal Acid Lipase Deficiency Alexion Pharmaceuticals, Inc. 640
Not applicableStudy completedNCT00001721What this trial is testingStudy of Smith-Lemli-Opitz SyndromeWho this might be right forSmith-Lemli-Opitz Syndrome Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) 130
Testing effectiveness (Phase 2)Enrolling By InvitationNCT04240821What this trial is testingTheophylline for Treatment of PseudohypoparathyroidismWho this might be right forPseudohypoparathyroidismPseudohypoparathyroidism Type 1aAlbright Hereditary Osteodystrophy Jaclyn Tamaroff 34
Not applicableStudy completedNCT05181839What this trial is testingDescribe the Lived Experience of XLH for Adolescents at End of Skeletal GrowthWho this might be right forX-Linked Hypophosphatemia Kyowa Kirin Pharmaceutical Development Ltd 25
Not applicableWithdrawnNCT02778295What this trial is testingBiomarker for Patients With Fabry Disease (BioFabry)Who this might be right forAngiokeratomasChronic Kidney DiseaseOcular Abnormalities+1 more CENTOGENE GmbH Rostock
Large-scale testing (Phase 3)Ended earlyNCT04395339What this trial is testingGM1 Prophylaxis for WBRT Related Cognitive DysfunctionWho this might be right forBrain MetastasesRadiotherapy Side EffectCognitive Impairment+2 more Sun Yat-sen University 51
Not applicableEnded earlyNCT00827762What this trial is testingBehavioral Effects of Kuvan in Children With Mild PhenylketonuriaWho this might be right forPhenylketonuria Washington University School of Medicine 2
Not applicableLooking for participantsNCT07716488What this trial is testingScreening for Disorders of Lipid Metabolism and Familial Hyperlipidemia in Children and Adolescents With Increased Cardiovascular Risk Due to Chronic Diseases Such as Congenital Heart Disease, Chronic Inflammatory Bowel Disease, Celiac Disease and Rheumatic DisordersWho this might be right forLipid Metabolism DisordersLipid Metabolism, Inborn ErrorsCongenital Heart Disease+4 more Alexandra Miriam Kiess 600
Testing effectiveness (Phase 2)Study completedNCT01965327What this trial is testingInterferon Gamma-1b in Friedreich Ataxia (FRDA)Who this might be right forFriedreich Ataxia Children's Hospital of Philadelphia 12
Post-approval studies (Phase 4)Active Not RecruitingNCT07248761What this trial is testingEarly Hydrocortisone Versus Regular Treatment in Shock in Extremely Preterm Neonates - an Open Randomized Controlled TrialWho this might be right forShockPreterm Birth ComplicationPreterm Intraventricular Hemorrhage+8 more Coordinación de Investigación en Salud, Mexico 76
Testing effectiveness (Phase 2)Study completedNCT02595983What this trial is testingThe Study of an Investigational Drug, Revusiran (ALN-TTRSC), for the Treatment of Transthyretin (TTR)-Mediated Amyloidosis in Patients Whose Disease Has Continued to Worsen Following Liver TransplantWho this might be right forTransthyretin (TTR)-Mediated AmyloidosisFamilial Amyloidotic Polyneuropathy (FAP)ATTR Amyloidosis+1 more Alnylam Pharmaceuticals 12
Not applicableLooking for participantsNCT06439654What this trial is testingAtlantic Lipid Lowering Treatment Optimization ProgramWho this might be right forFamilial HypercholesterolemiaLipoprotein Types--Lp System Lp(A) HyperlipoproteinemiaApolipoprotein B 100, Familial Defective+2 more Atlantic Health System 250
Testing effectiveness (Phase 2)Active Not RecruitingNCT04201405What this trial is testingGene Therapy with Modified Autologous Hematopoietic Stem Cells for Patients with Mucopolysaccharidosis Type IIIAWho this might be right forMucopolysaccharidosis Type IIIA University of Manchester 5
Large-scale testing (Phase 3)Study completedNCT01347073What this trial is testingStudy of the Safety, Pharmacokinetics and Efficacy of HPN-100, in Pediatric Subjects With Urea Cycle Disorders (UCDs)Who this might be right forUrea Cycle Disorders Amgen 23