353 completed, 85 recruiting, 76 unknown, 26 terminated. 144 Not applicable, 117 Phase 2, 69 Phase 3, 53 Phase 1, 6 Phase 4.
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Tick up to 5 trials to compare them side by side (eligibility, arms, endpoints, adverse events) in a Literature Matrix.
| Trial | Phase | Status | Sponsor | Enrollment | Start | Updated |
|---|---|---|---|---|---|---|
| An Exercise and Lifestyle Programme for Adults With Vascular Ehlers-Danlos Syndrome: A Feasibility Study Co-designed exercise-based lifestyle intervention - Vascular Ehlers Danlos Syndrome | Not applicable | Not yet recruiting | Sheffield Hallam University | 40 | 2027-03-01 | 2026-07-13 |
| An Extension Study of S-606001 in Participants With Late-onset Pompe Disease (LOPD) S-606001, ERT - Pompe Disease | Phase 2 | Not yet recruiting | Shionogi | 60 | 2026-11-02 | 2026-10-13 |
| Clinical, Electrophysiological and Genetic Characteristics of Hereditary and Inflammatory Polyneuropathies in France Genetic and Inflammatory Polyneuropathies | Not yet recruiting | Assistance Publique - Hôpitaux de Paris | 1000 | 2026-11-01 | 2026-10-01 | |
| A Real-World Medical Chart Review of Spinal Muscular Atrophy Patients Treated With Onasemnogene Abeparvovec in Saudi Arabia Spinal Muscular Atrophy | Not yet recruiting | Novartis Pharmaceuticals | 6 | 2026-11-01 | 2026-10-15 | |
| Genetic Analysis of Uncommon Disease Presentations in Non-US Populations Undiagnosed Diseases, Rare Diseases | Recruiting | National Human Genome Research Institute (NHGRI) | 400 | 2026-10-27 | 2026-10-22 | |
| EpiSign International: Expanding Epigenomic Testing in Rare Disease Integrated EPIC/CNV microarray with EpiSign analysis, EpiSign analysis with EPIC DNA methylation microarray - Rare Disease, Undiagnosed Disease | Not yet recruiting | University of Manchester | 192 | 2026-10-01 | 2026-09-24 | |
| Impact of Ultra-fast Genetic Diagnosis of Familial Lymphohistiocytosis on the Time to Bone Marrow Transplantation and Overall Survival Third-generation sequencing - Familial Lymphohistiocytosis, Lymphohistiocytosis | Not applicable | Not yet recruiting | Assistance Publique Hopitaux De Marseille | 240 | 2026-10-01 | 2026-08-03 |
| A Study of S-606001 as Monotherapy in Participants With Late-onset Pompe Disease (LOPD) S-606001 - Pompe Disease | Phase 1 | Not yet recruiting | Shionogi | 15 | 2026-09-30 | 2026-08-26 |
| Implementation-effectiveness Trial of Mainstreaming of Clinical Genomic Sequencing for Rare Disease in Ontario, Canada Genome-wide Sequencing Ordering - Evaluation of Mainstreamed Models of Genetic Service Delivery, Genetic Disease | Not yet recruiting | The Hospital for Sick Children | 100 | 2026-09-01 | 2026-09-02 | |
| Quality of Life in Adults With Untreated Fabry Disease in Sweden (QoLUF) Qualitative Interview - Fabry Disease | Enrolling by invitation | Vastra Gotaland Region | 35 | 2026-08-21 | 2026-08-27 | |
| Real-World Effectiveness and Safety of Pegcetacoplan in Patients With C3G or IC-MPG: A Multi-Country Study Pegcetacoplan - C3 Glomerulopathy (C3G), Immune Complex Membranoproliferative Glomerulonephritis (IC-MPGN) | Phase 4 | Recruiting | Swedish Orphan Biovitrum | 150 | 2026-08-05 | 2026-09-09 |
| AI-assisted Rare Disease Diagnosis AI system - Rare Disorders, Rare Diseases | Not applicable | Recruiting | Peking Union Medical College Hospital | 1056 | 2026-08-01 | 2026-10-13 |
| Digital Outcome Assessment Using AI Active Gaming and Motion Capture in Friedreich Ataxia Laboratory validation session (VSimulator), Home-based active gaming assessment - Friedreich Ataxia | Not yet recruiting | University of Exeter | 40 | 2026-07-30 | 2026-07-28 | |
| Elafibranor Pregnancy Surveillance Program: A Study to Evaluate the Safety of Elafibranor During Pregnancy Elafibranor - Pregnancy Related | Recruiting | Ipsen | 3 | 2026-07-29 | 2026-10-06 | |
| The Mayo Clinic Rare and Undiagnosed Disease Hackathon Undiagnosed Diseases, Genetic Diseases | Enrolling by invitation | Mayo Clinic | 50 | 2026-07-24 | 2026-10-01 | |
| Stakeholders of Rare Diseases Informing Values In Neuroethics Rare Disorder, Disorder, Neurologic | Recruiting | St. Jude Children's Research Hospital | 385 | 2026-07-08 | 2026-07-13 | |
| Artificial Intelligence for General and Rare Disease Diagnosis AI-Assisted Diagnosis - Rare Disorders, Rare Diseases | Not applicable | Completed | Peking Union Medical College Hospital | 243 | 2026-06-10 | 2026-10-14 |
| Identification of Cellular Biomarkers of Rare Eye Diseases in Adults Ophthalmological visit, Questionnaires, Blood sample collection - Rare Diseases, Ophthalmology | Not applicable | Recruiting | Institut National de la Santé Et de la Recherche Médicale, France | 110 | 2026-06-01 | 2026-07-07 |
| Implementing Dynamic Consent for Rare Disease Patients Online consenting - Rare Disorders | Not yet recruiting | Istituto Ortopedico Rizzoli | 50 | 2026-06-01 | 2026-04-22 | |
| Safety, Tolerability, and Preliminary Effectiveness of CTH120 in Fragile X Syndrome CTH120, CTH120 placebo hard capsules - Fragile X Syndrome (FXS), Fragile X Syndrome | Phase 2 | Recruiting | Connecta Therapeutics, S.L. | 30 | 2026-05-21 | 2026-07-17 |
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Genetic Diseases, Inborn (94) · Neurologic Manifestations (73) · Mental Disorders (71) · Respiratory Tract Diseases (50) · Communicable Diseases (48) · Immune System Diseases (48) · Metabolism, Inborn Errors (42) · Endocrine System Diseases (34) · Hematologic Diseases (34) · Connective Tissue Diseases (29) · Arthritis (26) · Cystic Fibrosis (21) · Gastrointestinal Diseases (17) · Urogenital Diseases (17)
Disease Attributes (590) · Pathologic Processes (590) · Pathological Conditions, Signs and Symptoms (590) · Congenital, Hereditary, and Neonatal Diseases and Abnormalities (276) · Nervous System Diseases (192) · Genetic Diseases, Inborn (154) · Nutritional and Metabolic Diseases (151) · Metabolic Diseases (135) · Central Nervous System Diseases (116) · Signs and Symptoms (110) · Brain Diseases (101) · Skin and Connective Tissue Diseases (101) · Musculoskeletal Diseases (82) · Hemic and Lymphatic Diseases (65) · Immune System Diseases (62)
Cyclophosphamide (17) · Filgrastim (12) · Antilymphocyte Serum (10) · Methylprednisolone (9) · Prednisone (8) · Cyclosporine (7) · Immunoglobulins (7) · Leuprolide (7) · Growth Hormone (6) · Methotrexate (6) · Surveys and Questionnaires (6) · tin mesoporphyrin (6) · Cysteamine (5) · Ursodeoxycholic Acid (5) · Acyclovir (4)
National Center for Research Resources (NCRR) (164) · FDA Office of Orphan Products Development (20) · Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) (13) · National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) (13) · National Institute of Neurological Disorders and Stroke (NINDS) (13) · University Hospital Tuebingen (13) · Assistance Publique - Hôpitaux de Paris (10) · IRCCS Policlinico S. Donato (10) · Fairview University Medical Center (7) · Institut National de la Santé Et de la Recherche Médicale, France (7) · National Human Genome Research Institute (NHGRI) (7) · National Institute of Allergy and Infectious Diseases (NIAID) (7) · Icahn School of Medicine at Mount Sinai (6) · Imagine Institute (6) · Amgen (5)
United States (244) · France (59) · Italy (51) · Germany (40) · United Kingdom (25) · Canada (22) · Spain (21) · Netherlands (15) · Australia (11) · China (11) · Belgium (9) · Israel (9) · Switzerland (8) · Austria (7) · Brazil (7)
Karl Elmo Anderson (7) · Richard J. Whitley (4) · Rosalind Ramsey-Goldman (4) · Alessandro Pini, MD (3) · Bruce Barshop (3) · Catherine A. Leitch (3) · Dana S. Hardin (3) · Gary L. Robertson (3) · Horacio Kaufmann (3) · Jerry R. Mendell (3) · K. Scott Baker (3) · Massimo Federico, MD (3) · Pinchas Cohen (3)
PMID 30467742, PMID 37415957, PMID 28899825, PMID 32063397, PMID 32573764, PMID 33874971, PMID 10655252, PMID 11113214, PMID 11114637, PMID 11535445, PMID 12183720, PMID 12393404, PMID 12490682, PMID 12795371, PMID 12885347, PMID 12885750, PMID 12966125, PMID 15564716, PMID 15602505, PMID 15666063, PMID 15817019, PMID 15936729, PMID 16212446, PMID 16685181, PMID 17262855, PMID 17538176, PMID 17699247, PMID 17873417, PMID 17947042, PMID 18417336, PMID 18851928, PMID 19524577, PMID 19652063, PMID 19680671, PMID 19933766, PMID 20131296, PMID 20164459, PMID 20350831, PMID 20427647, PMID 20524979, PMID 20605905, PMID 20709904, PMID 20716238, PMID 20829370, PMID 20955402, PMID 21163445, PMID 21173013, PMID 21259015, PMID 21865579, PMID 21917992
2025 (4), 2023 (3), 2015 (2), 2017 (2), 2019 (2), 2018 (1), K07MH001197 (1), P01DK058327 (1), P01HL059407 (1), R01DK042822 (1), R01DK043690 (1), R01DK043858 (1), R01DK047112 (1), R01DK049368 (1), R01DK049524 (1)