Clinical trials
Observational Genetic Diseases, Inborn trials
Search ClinicalTrials.gov registrations by keyword, then narrow by condition, phase, status, country and start year.
241 trials match Source: ClinicalTrials.gov registrations
Trials started per year
By phase, 2000 to 2026.
| Category | Trials |
|---|---|
| 2000 | 2 |
| 2001 | 4 |
| 2002 | 1 |
| 2003 | 1 |
| 2004 | 3 |
| 2005 | 2 |
| 2006 | 3 |
| 2007 | 3 |
| 2008 | 2 |
| 2009 | 1 |
| 2010 | 4 |
| 2011 | 6 |
| 2012 | 7 |
| 2013 | 5 |
| 2014 | 8 |
| 2015 | 9 |
| 2016 | 7 |
| 2017 | 10 |
| 2018 | 15 |
| 2019 | 21 |
| 2020 | 14 |
| 2021 | 19 |
| 2022 | 20 |
| 2023 | 12 |
| 2024 | 13 |
| 2025 | 14 |
| 2026 | 10 |
Status
Trials by registry status. Select a bar to filter.
| Category | Trials |
|---|---|
| Completed | 103 |
| Recruiting | 65 |
| Unknown status | 39 |
| Active, not recruiting | 11 |
| Enrolling by invitation | 9 |
| Terminated | 6 |
| Not yet recruiting | 4 |
| Withdrawn | 3 |
| Suspended | 1 |
Top lead sponsors
A sponsor with a page on Pharma Observatory links to it.
| Category | Trials |
|---|---|
| National Center for Research Resources (NCRR) | 16 |
| National Human Genome Research Institute (NHGRI) | 12 |
| Novo Nordisk A/S | 8 |
| Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) | 6 |
| National Institute of Allergy and Infectious Diseases (NIAID) | 5 |
| Swedish Orphan Biovitrum | 5 |
| Boston Children's Hospital | 4 |
| Columbia University | 4 |
| National Heart, Lung, and Blood Institute (NHLBI) | 4 |
| CENTOGENE GmbH Rostock | 3 |
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 | 241 |
| Rare Diseases | 39 |
| Metabolic Diseases | 16 |
| Congenital Abnormalities | 15 |
| Metabolism, Inborn Errors | 14 |
| Hematologic Diseases | 12 |
| Nervous System Diseases | 11 |
| Respiratory Tract Diseases | 9 |
| Coagulation Protein Disorders | 8 |
| Hemorrhagic Disorders | 8 |
Trials
Showing 51 to 75 of 241. Each trial links to its page on Pharma Observatory.
141 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.
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