Large-scale testing (Phase 3)Ended earlyNCT04840667What this trial is testingReplagal in Treatment-naïve Adults With Fabry DiseaseWho this might be right forFabry Disease Shire 17
Not applicableStudy completedNCT02750982What this trial is testingLaughter Therapy Effects on Mood, Stress and Self-efficacy in People With Neurological Diseases.Who this might be right forAlzheimer's DiseaseAmyotrophic Lateral SclerosisBrain Injury+5 more Brown, Theodore R., M.D., MPH 24
Not applicableStudy completedNCT02985710What this trial is testingAssessment of Small Fiber Neuropathy in Rare Diseases Using SudoscanWho this might be right forSmall Fiber NeuropathyFabry DiseaseEhlers Danlos Syndrome+1 more Massachusetts General Hospital 102
Not applicableAvailableNCT05930223What this trial is testingIntravenous VAL-1221 Lafora Expanded Access ProtocolWho this might be right forLafora Disease Parasail, LLC
Not applicableLooking for participantsNCT03233646What this trial is testingRetinal Imaging in Neurodegenerative DiseaseWho this might be right forAlzheimer's DiseaseMild Cognitive ImpairmentParkinson's Disease+12 more Duke University 2,000
Post-approval studies (Phase 4)UnknownNCT03721627What this trial is testingChronic Hepatitis C Treatment in Egyptian Children With Gaucher Disease.Who this might be right forGaucher DiseaseHCV Mansoura University Children Hospital 10
Not applicableActive Not RecruitingNCT03115086What this trial is testingThe REPLACE Registry for Cholbam® (Cholic Acid)Who this might be right forBile Acid Synthesis Disorders Mirum Pharmaceuticals, Inc. 55
Early research (Phase 1)Ended earlyNCT04110496What this trial is testingSafety and Tolerability of RTX-134 in Adults With PhenylketonuriaWho this might be right forPhenylketonurias Rubius Therapeutics 1
Not applicableStudy completedNCT06694662What this trial is testingPKU EASY Microtabs Plus - Acceptability and ToleranceWho this might be right forPhenylketonuria (PKU) Galen Limited 10
Not applicableUnknownNCT06539169What this trial is testingFLOWER: Following Longitudinal Outcomes With Epidemiology for Rare DiseasesWho this might be right forAlpha-ThalassemiaBeta-ThalassemiaAmyloidosis+14 more xCures 1,000
Large-scale testing (Phase 3)Study completedNCT00553631What this trial is testingStudy of Gene-Activated® Human Glucocerebrosidase (GA-GCB) ERT Compared With Imiglucerase in Type I Gaucher DiseaseWho this might be right forGaucher Disease, Type 1 Shire 34
Not applicableLooking for participantsNCT03056794What this trial is testingNatural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex DeficienciesWho this might be right forPyruvate Dehydrogenase Complex Deficiency Disease University of Pittsburgh 150
Not applicableUnknownNCT05635266What this trial is testingTissue Repository Providing Annotated Biospecimens for Approved Investigator-directed Biomedical Research InitiativesWho this might be right forAge-Related Macular DegenerationAllergiesAlpha-Gal Syndrome+44 more Sanguine Biosciences 20,000
Not applicableStudy completedNCT00302146What this trial is testingPositron Emission Tomography (PET) Imaging in People With Gaucher MutationsWho this might be right forParkinson DiseaseGaucher Disease National Human Genome Research Institute (NHGRI) 64
Post-approval studies (Phase 4)Study completedNCT01650779What this trial is testingA Study Evaluating Glycosphingolipid Clearance in Patients Treated With Agalsidase Alfa Who Switch to Agalsidase BetaWho this might be right forFabry Disease Genzyme, a Sanofi Company 15
Not applicableStudy completedNCT02654886What this trial is testingSafety and Effectiveness of Resistance Exercise Training in Patients With Pompe Disease.Who this might be right forPompe DiseaseMuscle Weakness University of California, Irvine 10
Not applicableStudy completedNCT03876522What this trial is testingNatural History and Functional Status Study of Patients With Lafora DiseaseWho this might be right forLafora Disease Ionis Pharmaceuticals, Inc. 33
Not applicableStudy completedNCT03289065What this trial is testingFabry Outcome Survey (FOS)Who this might be right forFabry Disease Shire 4,000
Not applicableLooking for participantsNCT00029965What this trial is testingNatural History of Glycosphingolipid Storage Disorders and Glycoprotein DisordersWho this might be right forNeurological RegressionMyoclonusCherry Red Spot+1 more National Human Genome Research Institute (NHGRI) 200
Not applicableStudy completedNCT03323307What this trial is testingLow Cost OCT for Point of CareWho this might be right forOptical Coherence Tomography (OCT) of the Retina Duke University 70