Clinical trials
Genetic Diseases, Inborn trials
Search ClinicalTrials.gov registrations by keyword, then narrow by condition, phase, status, country and start year.
571 trials match Source: ClinicalTrials.gov registrations
Trials started per year
By phase, 2000 to 2026.
| Category | Trials |
|---|---|
| 2000 | 10 |
| 2001 | 5 |
| 2002 | 1 |
| 2003 | 2 |
| 2004 | 5 |
| 2005 | 3 |
| 2006 | 7 |
| 2007 | 7 |
| 2008 | 5 |
| 2009 | 14 |
| 2010 | 9 |
| 2011 | 17 |
| 2012 | 14 |
| 2013 | 10 |
| 2014 | 14 |
| 2015 | 15 |
| 2016 | 23 |
| 2017 | 24 |
| 2018 | 36 |
| 2019 | 33 |
| 2020 | 27 |
| 2021 | 38 |
| 2022 | 39 |
| 2023 | 28 |
| 2024 | 34 |
| 2025 | 30 |
| 2026 | 28 |
Status
Trials by registry status. Select a bar to filter.
| Category | Trials |
|---|---|
| Completed | 282 |
| Recruiting | 108 |
| Unknown status | 58 |
| Active, not recruiting | 40 |
| Terminated | 32 |
| Enrolling by invitation | 17 |
| Not yet recruiting | 14 |
| Withdrawn | 11 |
| No longer available | 3 |
| Approved for marketing | 3 |
| Available | 2 |
| Suspended | 1 |
Top lead sponsors
A sponsor with a page on Pharma Observatory links to it.
| Category | Trials |
|---|---|
| National Center for Research Resources (NCRR) | 31 |
| Novo Nordisk A/S | 19 |
| BioMarin Pharmaceutical | 13 |
| National Human Genome Research Institute (NHGRI) | 12 |
| Vertex Pharmaceuticals Incorporated | 11 |
| Assistance Publique - Hôpitaux de Paris | 7 |
| National Cancer Institute (NCI) | 7 |
| QED Therapeutics, a BridgeBio company | 7 |
| Regeneron Pharmaceuticals | 7 |
| AO GENERIUM | 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 | 571 |
| Rare Diseases | 93 |
| Metabolic Diseases | 56 |
| Hematologic Diseases | 54 |
| Nervous System Diseases | 50 |
| Metabolism, Inborn Errors | 48 |
| Musculoskeletal Diseases | 37 |
| Respiratory Tract Diseases | 37 |
| Cystic Fibrosis | 33 |
| Congenital Abnormalities | 26 |
Trials
Showing 51 to 75 of 571. Each trial links to its page on Pharma Observatory.
471 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
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