Clinical trials
Completed Genetic Diseases, Inborn trials
Search ClinicalTrials.gov registrations by keyword, then narrow by condition, phase, status, country and start year.
282 trials match Source: ClinicalTrials.gov registrations
Trials started per year
By phase, 2000 to 2026.
| Category | Trials |
|---|---|
| 2000 | 8 |
| 2001 | 4 |
| 2002 | 1 |
| 2003 | 2 |
| 2004 | 5 |
| 2005 | 2 |
| 2006 | 5 |
| 2007 | 4 |
| 2008 | 5 |
| 2009 | 12 |
| 2010 | 6 |
| 2011 | 11 |
| 2012 | 12 |
| 2013 | 7 |
| 2014 | 9 |
| 2015 | 7 |
| 2016 | 12 |
| 2017 | 15 |
| 2018 | 24 |
| 2019 | 18 |
| 2020 | 12 |
| 2021 | 7 |
| 2022 | 14 |
| 2023 | 9 |
| 2024 | 2 |
| 2025 | 4 |
Status
Trials by registry status. Select a bar to filter.
| Category | Trials |
|---|---|
| Completed | 282 |
Top lead sponsors
A sponsor with a page on Pharma Observatory links to it.
| Category | Trials |
|---|---|
| National Center for Research Resources (NCRR) | 24 |
| Novo Nordisk A/S | 19 |
| National Human Genome Research Institute (NHGRI) | 8 |
| BioMarin Pharmaceutical | 7 |
| Regeneron Pharmaceuticals | 7 |
| FDA Office of Orphan Products Development | 6 |
| National Cancer Institute (NCI) | 5 |
| National Heart, Lung, and Blood Institute (NHLBI) | 5 |
| Swedish Orphan Biovitrum | 5 |
| Vertex Pharmaceuticals Incorporated | 5 |
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 | 282 |
| Rare Diseases | 58 |
| Hematologic Diseases | 36 |
| Respiratory Tract Diseases | 29 |
| Cystic Fibrosis | 27 |
| Metabolic Diseases | 26 |
| Metabolism, Inborn Errors | 24 |
| Nervous System Diseases | 22 |
| Anemia, Sickle Cell | 18 |
| Musculoskeletal Diseases | 18 |
Trials
Showing 26 to 50 of 282. Each trial links to its page on Pharma Observatory.
182 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.