Clinical trials
Genetic Diseases, Inborn trials in the United States
Search ClinicalTrials.gov registrations by keyword, then narrow by condition, phase, status, country and start year.
295 trials match Source: ClinicalTrials.gov registrations
Trials started per year
By phase, 2000 to 2026.
| Category | Trials |
|---|---|
| 2000 | 7 |
| 2001 | 4 |
| 2002 | 1 |
| 2003 | 1 |
| 2004 | 3 |
| 2005 | 2 |
| 2006 | 3 |
| 2007 | 5 |
| 2008 | 3 |
| 2009 | 8 |
| 2010 | 4 |
| 2011 | 10 |
| 2012 | 11 |
| 2013 | 3 |
| 2014 | 10 |
| 2015 | 8 |
| 2016 | 9 |
| 2017 | 12 |
| 2018 | 21 |
| 2019 | 17 |
| 2020 | 16 |
| 2021 | 20 |
| 2022 | 20 |
| 2023 | 17 |
| 2024 | 12 |
| 2025 | 10 |
| 2026 | 13 |
Status
Trials by registry status. Select a bar to filter.
| Category | Trials |
|---|---|
| Completed | 156 |
| Recruiting | 44 |
| Active, not recruiting | 32 |
| Terminated | 21 |
| Unknown status | 16 |
| Enrolling by invitation | 15 |
| Not yet recruiting | 4 |
| Withdrawn | 2 |
| Available | 2 |
| Suspended | 1 |
| No longer available | 1 |
| Approved for marketing | 1 |
Top lead sponsors
A sponsor with a page on Pharma Observatory links to it.
| Category | Trials |
|---|---|
| National Center for Research Resources (NCRR) | 12 |
| National Human Genome Research Institute (NHGRI) | 12 |
| Vertex Pharmaceuticals Incorporated | 11 |
| BioMarin Pharmaceutical | 10 |
| National Cancer Institute (NCI) | 7 |
| QED Therapeutics, a BridgeBio company | 7 |
| Boston Children's Hospital | 6 |
| Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) | 6 |
| National Institute of Allergy and Infectious Diseases (NIAID) | 6 |
| Regeneron Pharmaceuticals | 6 |
Top conditions
MeSH conditions the trials were registered with, not their broader categories. A condition with a page on Pharma Observatory links to it.
| Category | Trials |
|---|---|
| Genetic Diseases, Inborn | 295 |
| Rare Diseases | 44 |
| Metabolism, Inborn Errors | 34 |
| Hematologic Diseases | 33 |
| Metabolic Diseases | 31 |
| Musculoskeletal Diseases | 30 |
| Nervous System Diseases | 30 |
| Anemia, Sickle Cell | 20 |
| Genetic Diseases, X-Linked | 20 |
| Respiratory Tract Diseases | 17 |
Trials
Showing 1 to 25 of 295. Each trial links to its page on Pharma Observatory.
195 more trials match. See them on Pharma Observatory
Recently changed trials
Changes observed in the last 7 days, newest first, site-count changes left out. Source: ClinicalTrials.gov.
No changes to these trials in the last 7 days.
Go deeper on Pharma Observatory
Pharma Observatory connects clinical trials, sponsors, sites and investigators in one searchable platform.