Rare Diseases Clinical Trials

98 clinical trials for Rare Diseases across international registries, including 40 currently recruiting participants. Compare status, phase, eligibility criteria and locations.

• Genetic Analysis of Uncommon Disease Presentations in Non-US Populations — RECRUITING
• Epidemiological Study of Treatment Approaches in AChR-Antibody Positive Generalized Myasthenia Gravis in Russia — RECRUITING
• Longitudinal Studies of Patient With FPDMM — RECRUITING
• Identification of Cellular Biomarkers of Rare Eye Diseases in Adults — RECRUITING · NA
• Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN — RECRUITING · NA
• Baker Gordon Syndrome Natural History Study — RECRUITING
• UW Undiagnosed Genetic Diseases Program — RECRUITING
• Fibroblasts and Thoracic Aortic Aneurysms: in Vitro Characterization in With Marfan Syndrome and Genetic Aortic Diseases — RECRUITING
• Intact Cord Resuscitation in CDH — RECRUITING · NA
• Diagnostic Value of Exome/ Genome Sequencing, Conventional Methods in Rare Diseases and Familial Tumor Syndromes — RECRUITING
• Evaluation of Socio-professional Inclusion for Young Adults Aged 15-25 Living With a Rare Genetic Disability — RECRUITING
• BEhavioral and Adherence Model for Improving Quality, Health Outcomes and Cost-Effectiveness of healthcaRe — RECRUITING · NA
• Rheopheresis as Adjuvant Treatment of Calciphylaxis — RECRUITING · NA
• Genetic Study to Determine the Cause of Birth Defects in Newborns in Texas — RECRUITING · NA
• Institutional Registry of Rare Diseases — RECRUITING
• Umbrella Study for Single Patient Treatments in Oncology — RECRUITING
• Rare and Undiagnosed Disease Research Biorepository — RECRUITING
• Swiss Rare Disease Registry (SRDR) — RECRUITING
• Retrospective Epidemiological Study of Patients in the National Cohort of the French TMA Center — RECRUITING
• Aortic Stiffness in Patients With Genetic Aortopathies — RECRUITING
• Structural Chromosome Rearrangements and Brain Disorders — RECRUITING
• DeciFace: Decipher the Influence of Ethnic Backgrounds on the Facial Dysmorphic Features of Rare Mendelian Disorders — RECRUITING
• SLC13A5 Deficiency Natural History Study - United States Only — RECRUITING
• Gait and Balance Impairment in Rare and Very Rare Neurological Diseases — RECRUITING
• Genomic Profiling of Genetic and Rare Diseases — RECRUITING · NA
• Diagnostic Research in Patients With Rare Diseases -Solving the Unsolved Rare Diseases — RECRUITING
• Genetic Causes of Discrepant Clinic in Monogenic Twins — RECRUITING
• PREcision Diagnostics in Rare genetIC Diseases and Tumors - Long Read Sequencing — RECRUITING
• Marfan Syndrome (MFS) and Facial Dysmorphism: Non-invasive 3D Assessment — RECRUITING
• Solving Riddles Through Sequencing — RECRUITING
• A Multi-Site Leukopak Repository Providing Annotated Biospecimens for Approved Investigator-Directed Biomedical Research Initiatives — RECRUITING
• SLC13A5 Deficiency Natural History Study - Remote Only — RECRUITING
• Longitudinal Study of Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases. — RECRUITING
• FLOWER: Following Longitudinal Outcomes With Epidemiology for Rare Diseases — RECRUITING
• Rare Tumours in Children and Adolescents (STEP) — RECRUITING
• Epilepsy Learning Healthcare System (ELHS) — RECRUITING
• Evaluation of the effectiveness of a new joint transition consultation for rare genetic diseases   ZSEA - Human Genetics   — RECRUITING
• Blood Spot and Urine Metabolomic Screening Applied to Rare Diseases — RECRUITING · NA
• Genome-based Management of Patients in Precision Medicine (Ge-Med) Towards a Genomic Health Program — RECRUITING · NA
• Evaluation of HEArt invoLvement in Patients With FABRY Disease — RECRUITING
• AI-assisted Rare Disease Diagnosis — NOT_YET_RECRUITING · NA
• Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation — TERMINATED · PHASE1
• Epidemiological Study of Treatment Approaches on AQP4-IgG Positive NMOSD in Russia — TERMINATED
• The Mayo Clinic Rare and Undiagnosed Disease Hackathon — NOT_YET_RECRUITING
• Marfan Syndrome and Quality of Life of Pediatric Patients — ACTIVE_NOT_RECRUITING
• Ascending Doses of Crofelemer Powder for Oral Solution in Pediatric Microvillus Inclusion Disease (MVID) — ACTIVE_NOT_RECRUITING · PHASE2
• Artificial Intelligence for Rare Disease Diagnosis — NOT_YET_RECRUITING · NA
• “Scan-to-Diagnosis” – Prospective and retrospective evaluation study on AI-supported automated generation of medical case reports at the Center for Rare Diseases — NOT_YET_RECRUITING
• A Multi-Dimensional Model of cAre and transItion for Patients With cOmplex RAre Diseases — ACTIVE_NOT_RECRUITING
• Using Social Robots in Children With Rare Diseases and Their Parents: A Feasibility Study — COMPLETED · NA

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