Not applicableStudy completedNCT01632111What this trial is testingPulmonary Involvement in Patients With Fabry DiseaseWho this might be right forFabry Disease University of Zurich 110
Early research (Phase 1)Study completedNCT02251600What this trial is testingA Pharmacokinetic Study of Oral Deflazacort in Children and Adolescent Subjects With Duchenne Muscular DystrophyWho this might be right forDuchenne Muscular Dystrophy PTC Therapeutics 24
Testing effectiveness (Phase 2)Study completedNCT01761292What this trial is testingAssess Safety/Tolerability, pk, Effects on Histology, Clinical Parameters of Givinostat in Children With DMDWho this might be right forDuchenne Muscular Dystrophy (DMD) Italfarmaco 20
Testing effectiveness (Phase 2)Study completedNCT01856868What this trial is testingUse of (-)-Epicatechin in the Treatment of Becker Muscular Dystrophy (Pilot Study)Who this might be right forBecker Muscular Dystrophy Craig McDonald, MD 7
Testing effectiveness (Phase 2)Study completedNCT03862950What this trial is testingA Trial of Metformin in Individuals With Fragile X Syndrome (Met)Who this might be right forFragile X SyndromeFragile X Mental Retardation SyndromeMental Retardation, X-Linked+7 more University of Alberta 125
Not applicableStudy completedNCT04920110What this trial is testingDevelopment of the ORCA Communication Measure for Rett SyndromeWho this might be right forRett Syndrome Rett Syndrome Research Trust 272
Large-scale testing (Phase 3)Study completedNCT06431113What this trial is testingEffect of Fixed Combination Citicoline Homotaurine and Pyrroloquinoline Quinone on Pattern-electroretinogram in GlaucomaWho this might be right forGlaucomaNeuroprotection Fondazione IRCCS Policlinico San Matteo di Pavia 40
Post-approval studies (Phase 4)Study completedNCT00097890What this trial is testingReplagal Enzyme Replacement Therapy for Adults With Fabry DiseaseWho this might be right forFabry Disease National Institute of Neurological Disorders and Stroke (NINDS) 25
Not applicableLooking for participantsNCT06564974What this trial is testingRegistry Study to Observe Long-term Safety of Vamorolone (AGAMREE®) in Patients With Duchenne Muscular Dystrophy-SUMMITWho this might be right forDuchenne Muscular Dystrophy Catalyst Pharmaceuticals, Inc. 250
Not applicableEnded earlyNCT06014541What this trial is testingObservational Study to Characterize Biomarkers and Disease Progression in Participants With Methyl CpG Binding Protein 2 (MECP2) Duplication SyndromeWho this might be right forMethyl CpG Binding Protein 2 (MECP2) Duplication Syndrome Ionis Pharmaceuticals, Inc. 29
Not applicableStudy completedNCT02465931What this trial is testingDecisional Capacity and Informed Consent in Fragile X SyndromeWho this might be right forFragile X Syndrome (FXS) RTI International 152
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
Early research (Phase 1)Study completedNCT02418793What this trial is testingA Long-Acting r-Factor 7a (Factor VIIa) in Adult Men With Hemophilia A or BWho this might be right forHemophilia AHemophilia B OPKO Health, Inc. 27
Large-scale testing (Phase 3)Active Not RecruitingNCT05606614What this trial is testingA Phase 1/2/3 Study of TSHA-102 Gene Therapy in Females With Rett Syndrome (REVEAL Pivotal Study)Who this might be right forRett Syndrome Taysha Gene Therapies, Inc. 17
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 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
Not applicableStudy completedNCT04959188What this trial is testingNeeds Assessment for Individuals and Families Affected by Dyskeratosis Congenita (DC) and Related Telomere Biology Disorders (TBD)Who this might be right forDyskeratosis CongenitaTelomere Biology Disorders National Cancer Institute (NCI) 53
Not applicableApproved For MarketingNCT02592941What this trial is testingDeflazacort Expanded Access Program for Children, Adolescents and Adults With Duchenne Muscular DystrophyWho this might be right forDuchenne Muscular Dystrophy PTC Therapeutics
Large-scale testing (Phase 3)Study completedNCT01757405What this trial is testingRecombinant Factor VIIa BI (rFVIIa BI) Treatment of Acute Bleeding Episodes Per an On-demand RegimenWho this might be right forHemophilia AHemophilia B Baxalta now part of Shire 40