Not applicableStudy completedNCT06054971What this trial is testingNSAA NON-Interventional Study ProtocolWho this might be right forDuchenne Muscular Dystrophy Red Nucleus Enterprise Solutions, LLC 31
Testing effectiveness (Phase 2)Study completedNCT01462292What this trial is testingA Clinical Study to Assess Two Doses of GSK2402968 in Subjects With Duchenne Muscular Dystrophy (DMD)Who this might be right forMuscular Dystrophies GlaxoSmithKline 51
Not applicableStudy completedNCT02168114What this trial is testingMagnetic Resonance and Optical Imaging of Dystrophic and Damaged MuscleWho this might be right forDuchenne Muscular Dystrophy University of Florida 17
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
Large-scale testing (Phase 3)Study completedNCT01963143What this trial is testingBioequivalence Study to Evaluate the Pharmacokinetics, Safety, and Tolerability of Gammaplex® 10 and Gammaplex® 5% in Primary Immunodeficiency DiseasesWho this might be right forPrimary Immune Deficiency DisordersCommon Variable ImmunodeficiencyX-linked Agammaglobulinaemia+1 more Bio Products Laboratory 48
Not applicableWithdrawnNCT06634836What this trial is testingPatient Interview Study to Explore the Impact of Gene Therapy in Hemophilia A & BWho this might be right forHemophilia AHemophilia B Pfizer
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
Not applicableStudy completedNCT01959555What this trial is testingProject to Update the Study of Congenital Haemophilia in SpainWho this might be right forCongenital Bleeding DisorderHaemophilia AHaemophilia B Novo Nordisk A/S 1,157
Not applicableStudy completedNCT01625663What this trial is testingHeart and Muscle Metabolism in Barth SyndromeWho this might be right forBarth Syndrome Duke University 64
Testing effectiveness (Phase 2)Study completedNCT01725152What this trial is testingGanaxolone Treatment in Children With Fragile X SyndromeWho this might be right forFragile x Syndrome Marinus Pharmaceuticals 59
Testing effectiveness (Phase 2)Study completedNCT06304064What this trial is testingHalt cardiomyOPathy progrEssion in Duchenne (HOPE-OLE)Who this might be right forDuchenne Muscular Dystrophy Capricor Inc. 8
Post-approval studies (Phase 4)Study completedNCT00001317What this trial is testingA Phase IV Study of Recombinant Human Gamma Interferon in Patients With Chronic Granulomatous Diseases of ChildhoodWho this might be right forChronic Granulomatous Disease National Institute of Allergy and Infectious Diseases (NIAID) 100
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
Testing effectiveness (Phase 2)Study completedNCT04188964What this trial is testingStudy to Assess the Safety, Tolerability, Pharmacokinetics and Efficacy of Burosumab in Patients Less Than 1 Year of AgeWho this might be right forX-linked Hypophosphatemia (XLH) Kyowa Kirin Pharmaceutical Development Ltd 16
Post-approval studies (Phase 4)Ended earlyNCT04708314What this trial is testingAn Open-Label Study of Golodirsen in Non-Ambulant Patients With Duchenne Muscular DystrophyWho this might be right forDuchenne Muscular Dystrophy Rare Disease Research, LLC 2
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 applicableLooking for participantsNCT03305835What this trial is testingMonogenic Kidney Stone - Genetic TestingWho this might be right forRare Kidney Stone Diseases Mayo Clinic 6,000
Not applicableStudy completedNCT00086476What this trial is testingStudy of Megakaryocytes From Patients With Abnormal Platelet VesiclesWho this might be right forBlood Coagulation Disorders National Human Genome Research Institute (NHGRI) 3
Not applicableStudy completedNCT00879515What this trial is testingExamining Social, Emotional, and Cognitive Functioning in People With Fragile X and Down SyndromesWho this might be right forAnxiety DisordersChild Developmental Disorders, Pervasive University of California, Davis 511