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Condition: Rare Genetic Disease Synced from ClinicalTrials.gov · July 29, 2026

Recruiting studies: Rare Genetic Disease

Studies currently listed as recruiting on the public registry for this search term. Each page explains the study in plain language, with locations and the study team's contact details. Clinicians: generate a printable list for your patient →

Novel Genetic Disorders of the Immune System
Phase N/A · 1 location(s) · National Institute of Allergy and Infectious Diseases (NIAID · NCT02257892Evaluation of Socio-professional Inclusion for Young Adults Aged 15-25 Living With a Rare Genetic Disability
Phase N/A · 1 location(s) · Imagine Institute · NCT07527624Epidural Spinal Cord Stimulation for Lower-limb Impairment in Adrenomyeloneuropathy
NA · 4 location(s) · Third Military Medical University · NCT06796920Personalized Training for People With Rare Neuromuscular Disorders
NA · 5 location(s) · Oslo University Hospital · NCT06708468Genetic Newborn Screening for Rare Diseases Within the Screen4Care Project
NA · 8 location(s) · University Hospital Freiburg · NCT06549218Analysing Outcomes After Prostate Cancer Diagnosis and Treatment in Carriers of Rare Germline Mutations
Phase N/A · 1 location(s) · Institute of Cancer Research, United Kingdom · NCT02705846Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network
Phase N/A · 33 location(s) · National Human Genome Research Institute (NHGRI) · NCT02450851Study of S-606001 as an Add-on to Enzyme Replacement Therapy (ERT) in Participants With Late-onset Pompe Disease (LOPD)
Phase 2 · 28 location(s) · Shionogi · NCT07123155Functional and Morphological Characterization of Multiple Osteochondromas Disorder
Phase N/A · 1 location(s) · Istituto Ortopedico Rizzoli · NCT06703736Marfan Syndrome (MFS) and Facial Dysmorphism: Non-invasive 3D Assessment
Phase N/A · 1 location(s) · IRCCS Policlinico S. Donato · NCT05702476Establishing Walking-related Digital Biomarkers in Rare Childhood Onset Progressive Neuromuscular Disorders
Phase N/A · 3 location(s) · Columbia University · NCT06839469Group CBT in Adolescents With Fragile X Syndrome and in Adolescents With Autism Spectrum Disorder
NA · 1 location(s) · Bambino Gesù Hospital and Research Institute · NCT06677866Genetics of Inherited Eye Disease
Phase N/A · 1 location(s) · National Eye Institute (NEI) · NCT02471287Assessing the Impact of Intensification of Lipid Lowering Therapy With Guidelines-based Evinacumab Administration on Cor
Phase N/A · 13 location(s) · Fondazione SISA (Societa Italiana per lo Studio della Arteri · NCT07447648A Study Evaluating the Real-World Experience of Givinostat in Patients With Duchenne Muscular Dystrophy
Phase N/A · 9 location(s) · ITF Therapeutics LLC · NCT07127978Delineating the Molecular Spectrum and the Clinical, Imaging and Neuronal Phenotype of Chopra-Amiel-Gordon Syndrome
Phase N/A · 1 location(s) · Boston Children's Hospital · NCT05528744FLOWER: Following Longitudinal Outcomes With Epidemiology for Rare Diseases
Phase N/A · 1 location(s) · xCures · NCT06539169Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies
Phase N/A · 1 location(s) · University of Pittsburgh · NCT03056794Self-questionnaire in Osteoporosis
Phase N/A · 1 location(s) · CHU de Quebec-Universite Laval · NCT07067827Evaluation of HEArt invoLvement in Patients With FABRY Disease
Phase N/A · 1 location(s) · Wuerzburg University Hospital · NCT03362164Clinical Study To Further Evaluate The Efficacy Of Dabrafenib Plus Trametinib In Patients With Rare BRAF V600E Mutation-
Phase N/A · 8 location(s) · Novartis Pharmaceuticals · NCT05868629RADeep Multicenter European Epidemiological Platform for Patients Diagnosed With Rare Anemia Disorders (RADs)
Phase N/A · 1 location(s) · Hospital Universitari Vall d'Hebron Research Institute · NCT06213402Universal Rare Gene Study: A Registry and Natural History Study of Retinal Dystrophies Associated With Rare Disease-Caus
Phase N/A · 36 location(s) · Jaeb Center for Health Research · NCT05589714FARD (RaDiCo Cohort) (RaDiCo-FARD)
Phase N/A · 15 location(s) · Institut National de la Santé Et de la Recherche Médicale, F · NCT05954416Rare Glycogen Storage Diseases Natural History Study
Phase N/A · 1 location(s) · Duke University · NCT06795152The Relationship Between Functional Independence and Family Well-being in Children With Rare Genetic Disorders
Phase N/A · 1 location(s) · Bahçeşehir University · NCT07348926Safety, Tolerability, and Preliminary Effectiveness of CTH120 in Fragile X Syndrome
Phase 2 · 2 location(s) · Connecta Therapeutics, S.L. · NCT07654114Clinical Trial in Patients With Barth Syndrome- 4TAZPower
Phase 4 · 3 location(s) · Stealth BioTherapeutics Inc. · NCT07531251Friedreich Ataxia Global Clinical Consortium UNIFIED Natural History Study
Phase N/A · 34 location(s) · Friedreich's Ataxia Research Alliance · NCT06016946Identification of the Molecular and/or Pathophysiological Bases of Rare Diseases of Genetic Origin (or Rare Forms of Fre
Phase N/A · 1 location(s) · Centre Hospitalier Universitaire Dijon · NCT03287193
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This page is independently generated by Eichor from the public ClinicalTrials.gov record and re-synced daily. It is not the sponsor's official website unless claimed. Nothing here is medical advice; eligibility is always determined by the study team — talk to your own doctor first.