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Trial Match

Clinical trials test new treatments โ€” sometimes the newest options available for a disease. Find trials that are recruiting now, near you. Open one to see its eligibility rules as simple questions to go through with your doctor.

Know your stage or your test results (such as EGFR, HER2 or BRCA)? Match trials to your own profile - nothing you type is saved.

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30 recruiting trials

for Rare Genetic Disease

Identification of the Molecular and/or Pathophysiological Bases of Rare Diseases of Genetic Origin (or Rare Forms of Frequent Diseases Suspected of Being of Genetic Origin). NCT03287193n/a1 site๐Ÿ“ Dijon Centre Hospitalier Universitaire Dijon ยท Tests: Blood and/or tissue sampling, high-throughput sequencing Caregiving Networks Across Disease Context and the Life Course NCT05007990n/a1 site๐Ÿ“ Bethesda National Human Genome Research Institute (NHGRI) Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford NCT01793168n/a1 site๐Ÿ“ Sioux Falls Sanford Health Rare Kidney Stone Consortium Patient Registry NCT00588562n/a4 sites๐Ÿ“ Rochester๐Ÿ“ Rochester๐Ÿ“ New York Mayo Clinic Transcriptomic Analysis of Fibroblasts and Blood in Patients With Rare Diseases NCT07075107NA1 site๐Ÿ“ Marseille Assistance Publique Hopitaux De Marseille ยท Tests: Blood collection, skin biopsy Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN NCT05499091NA1 site๐Ÿ“ Angers University Hospital, Angers ยท Tests: Skin biopsy, blood sample, urine sample UW Undiagnosed Genetic Diseases Program NCT04586075n/a1 site๐Ÿ“ Madison University of Wisconsin, Madison ยท Tests: Trio Whole Genome Sequencing and Participant-Specific Research Self-questionnaire in Osteoporosis NCT07067827n/a1 site๐Ÿ“ Quรฉbec CHU de Quebec-Universite Laval ยท Tests: Self-administered questionnaire, Family tree Vascular Disease Discovery Protocol NCT03538639n/a1 site๐Ÿ“ Bethesda National Heart, Lung, and Blood Institute (NHLBI) The KidneyCARE (Community Access to Research Equity) Study NCT05497518n/a1 site๐Ÿ“ Danville Tufts Medical Center ยท Tests: Observational study - registry Genomic Profiling of Genetic and Rare Diseases NCT06926127NA1 site๐Ÿ“ Rome Fondazione Policlinico Universitario Agostino Gemelli IRCCS ยท Tests: Whole Exome Sequencing (WES) The Relationship Between Functional Independence and Family Well-being in Children With Rare Genetic Disorders NCT07348926n/a1 site๐Ÿ“ Istanbul BahรงeลŸehir University Genetics of Inherited Eye Disease NCT02471287n/a1 site๐Ÿ“ Bethesda National Eye Institute (NEI) Clinical Trial in Patients With Barth Syndrome- 4TAZPower NCT07531251Phase 43 sites๐Ÿ“ Needham๐Ÿ“ Calgary๐Ÿ“ Bristol Stealth BioTherapeutics Inc. ยท Tests: Elamipretide, Placebo European Rare Blood Disorders Platform (ENROL) NCT06250595n/a1 site๐Ÿ“ Barcelona Hospital Universitari Vall d'Hebron Research Institute ยท Tests: Collection of clinical and laboratory data from EHR. Brain Aging in Phenylketonuria NCT06969209n/a1 site๐Ÿ“ Bern Insel Gruppe AG, University Hospital Bern GROWing Up With Rare GENEtic Syndromes NCT04463316n/a1 site๐Ÿ“ Rotterdam dr. Laura C. G. de Graaff-Herder ยท Tests: Retrospective file studies A Randomized Study of SPK-10001 Gene Therapy in Participants With Huntington's Disease NCT06826612Phase 1, Phase 25 sites๐Ÿ“ Boston๐Ÿ“ Cincinnati๐Ÿ“ Columbus Hoffmann-La Roche ยท Tests: SPK-10001, Placebo Surgery Control Rare Disease Registry Database for Movement Disorders in Southern Anhui Province NCT07838883n/a1 site๐Ÿ“ Wuhu First Affiliated Hospital of Wannan Medical College Drug Rediscovery for Rare Immune Mediated Inflammatory Diseases NCT06285539Phase 26 sites๐Ÿ“ Amsterdam๐Ÿ“ Heerlen๐Ÿ“ Nijmegen UMC Utrecht ยท Tests: Filgotinib Study to Investigate Genetic Causes of Severe Early Childhood Onset Obesity. NCT01998750n/a2 sites๐Ÿ“ Boston๐Ÿ“ New York Columbia University Understanding Beta Cell Disorders Through the Study of Rare Genotypes (ENDURE) NCT06478121n/a1 site๐Ÿ“ Exeter University of Exeter ยท Tests: Data and Blood collection, MRI Canadian Fabry Disease Initiative (CFDI) National Registry NCT00455104n/a5 sites๐Ÿ“ Calgary๐Ÿ“ Vancouver๐Ÿ“ Halifax Canadian Fabry Research Consortium ยท Tests: No intervention Observational Study for Patients With Hemoglobinopathies and Rare Inherited Anemia and Covid 19 NCT04746066n/a2 sites๐Ÿ“ Genova๐Ÿ“ Genova Societร  Italiana Talassemie ed Emoglobinopatie Rare Kidney Stone Consortium Biobank NCT02026388n/a1 site๐Ÿ“ Rochester Mayo Clinic Rare CFTR Mutation Cell Collection Protocol (RARE) NCT03161808n/a1 site๐Ÿ“ Birmingham George Solomon FARD (RaDiCo Cohort) (RaDiCo-FARD) NCT05954416n/a15 sites๐Ÿ“ Bobigny๐Ÿ“ Bordeaux๐Ÿ“ Bordeaux Institut National de la Santรฉ Et de la Recherche Mรฉdicale, โ€ฆ Establishing Walking-related Digital Biomarkers in Rare Childhood Onset Progressive Neuromuscular Disorders NCT06839469n/a3 sites๐Ÿ“ Palo Alto๐Ÿ“ Boston๐Ÿ“ New York Columbia University Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies NCT03056794n/a1 site๐Ÿ“ Pittsburgh University of Pittsburgh ยท Tests: No intervention A Study Evaluating the Real-World Experience of Givinostat in Patients With Duchenne Muscular Dystrophy NCT07127978n/a9 sites๐Ÿ“ Little Rock๐Ÿ“ Washington D.C.๐Ÿ“ Chicago ITF Therapeutics LLC
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