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| Withdrawn | 2 |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 51 to 75 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.