Rare and genetic diseases: clinical-trial pipeline
34,718 rare and genetic diseases trials are in ClinicalTrials.gov and the EU CTIS portal; 7,154 are not yet finished and 532 of those are in phase 2/3 or 3. Source: Arcadium Data, data as of .
Open trials by phase
| Phase | Trials |
|---|---|
| Not applicable | 4,937 |
| Phase 2 | 676 |
| Phase 3 | 419 |
| Phase 1 | 341 |
| Phase 1/2 | 291 |
| Phase 4 | 276 |
| Phase 2/3 | 113 |
| Early phase 1 | 100 |
| Not stated | 1 |
Sponsors with the most open trials
Recently changed open trials
| Registry id | Title | Sponsor | Phase | Status | Countries |
|---|---|---|---|---|---|
| NCT06373211 | Early Immunotherapy with Intravenous Immunoglobulin, Cyclophosphamide and Methylprednisolone in Patients with… | Assistance Publique - Hôpitaux de Paris | Phase 2 | Recruiting | France |
| NCT06185764 | A Phase 1/2 Study of VX-670 in Adult Participants With Myotonic Dystrophy 1 (DM1) | Vertex Pharmaceuticals Incorporated | Phase 1/2 | Active, not recruiting | Australia, Belgium, Canada, Germany +6 |
| NCT04980833 | Study Assessing Long-term Safety and Efficacy of Alpelisib in Patients With PIK3CA-Related Overgrowth Spectru… | Novartis Pharmaceuticals | Phase 2 | Active, not recruiting | Spain, France, Ireland, United States |
| NCT06046222 | Trial of Efficacy and Safety of NS-229 Versus Placebo in Patients With Eosinophilic Granulomatosis With Polya… | NS Pharma, Inc. | Phase 2 | Not yet recruiting | Canada, Germany, Spain, France +4 |
| NCT05684276 | DUMAS: Neo-Adjuvant Immunotherapy for Pancoast Tumors | Fundacion GECP | Phase 2 | Active, not recruiting | Spain |
| NCT05626855 | Long-Term Safety & Efficacy of Apitegromab in Patients With SMA Who Completed Previous Trials of Apitegromab | Scholar Rock, Inc. | Phase 3 | Active, not recruiting | Belgium, Germany, Spain, France +5 |
| NCT05594992 | An Extension Study of JR-141 to Evaluate the Long-term Safety and Efficacy in MPS II (Hunter Syndrome) Subjec… | JCR Pharmaceuticals Co., Ltd. | Phase 3 | Recruiting | Argentina, Brazil, Germany, Spain +4 |
| NCT05541627 | A Study to Evaluate AB-1001 Striatal Administration in Adults With Early Manifest Huntington's Disease | AskBio France, SAS, a subsidiary of AskBio Inc. | Phase 1/2 | Active, not recruiting | France |
| NCT05163288 | A Pivotal Study of N-Acetyl-L-Leucine on Niemann-Pick Disease Type C | IntraBio Inc | Phase 3 | Recruiting | Australia, Switzerland, Czechia, Germany +4 |
| 2024-512679-11-00 | Prospective, randomized, controlled, open, multicenter clinical trial on the efficacy and safety of materno-f… | Universitaetsklinikum Erlangen AöR | Phase 3 | Recruiting | Germany |
| 2023-505673-32-00 | A Phase 3, Randomized, Double-blinded, Placebo-controlled, Multicenter Study to Evaluate Efficacy and Safety… | Alexion Pharmaceuticals Inc. | Phase 3 | Active, not recruiting | Austria, Belgium, Germany, Spain +4 |
| NCT05966064 | DEnosumab for the Treatment of FIbrous Dysplasia/McCune-Albright Syndrome in Adults (DeFiD) | Leids Universitair Medisch Centrum (LUMC) | Phase 4 | Recruiting | Netherlands |
| NCT04319627 | Statins for Venous Event Reduction in Patients With Venous Thromboembolism | Ottawa Hospital Research Institute | Phase 3 | Recruiting | Canada, France, United Kingdom, Ireland +2 |
| NCT04157348 | Efficacy and Safety of Benralizumab in EGPA Compared to Mepolizumab. | AstraZeneca | Phase 3 | Active, not recruiting | Belgium, Canada, Germany, France +5 |
| NCT02912949 | A Study of Zenocutuzumab (MCLA-128) in Patients With Solid Tumors Harboring an NRG1 Fusion (eNRGy) | Partner Therapeutics, Inc. | Phase 2 | Not yet recruiting | Austria, Belgium, Canada, Germany +14 |
| 2023-506290-35-00 | Osprey: An Open-label Study to Investigate the Safety, Tolerability, and Exposure of Single Ascending Doses o… | Stoke Therapeutics Inc. | Phase 1 | Recruiting | Austria, Germany, Denmark, Italy |
| NCT06716814 | Study to Provide Continued Access to Treatment for Patients Completing a Previous Trial With Efanesoctocog Al… | Swedish Orphan Biovitrum | Phase 3 | Active, not recruiting | Bulgaria, Germany, Spain, France +6 |
| NCT06379789 | A Study to Investigate the Safety and Effectiveness of a Coagulation Factor IX Gene Insertion Therapy (REGV13… | Regeneron Pharmaceuticals | Phase 1/2 | Recruiting | Australia, Brazil, Canada, Germany +5 |
| NCT05059418 | Burning Mouth Syndrome - New Diagnostic Criteria and Treatment | Malmö University | Not applicable | Recruiting | Sweden |
| 2023-509201-77-00 | An Open-Label, Long Term Safety and Efficacy Study of Donidalorsen in the Prophylactic Treatment of Hereditar… | Ionis Pharmaceuticals Inc. | Phase 3 | Active, not recruiting | Belgium, Bulgaria, Germany, Spain +4 |
All areas: clinical-trial pipeline by sponsor.
Track a sponsor's pipeline
The API returns the same trials by sponsor website, phase, status, condition and country with a change feed, joined to hiring and public contract awards. Try it without a key on one sponsor.
Sources: ClinicalTrials.gov (U.S. National Library of Medicine, public domain) and the EU Clinical Trials Information System public portal (European Medicines Agency), data as of 2026-10-25. A trial that one register cites in the other is shown once. Organisation-level data only: investigators, contact persons and site names are not stored, and a sponsor that could be a private person is withheld. Sponsor-to-website matches are made by name and can be wrong; check the register before relying on a record. Independent of the NLM, NIH and EMA.
Cite as: Arcadium Data, "Rare and genetic diseases clinical trials: 7,154 open, 532 in phase 3", https://arcadiumdata.io/clinical-trials/area/rare-genetic/, data as of 2026-10-25.