Trials / Unknown
UnknownNCT01927809
Genetic Mosaicism in Hirschsprung's Disease
Genetics of Hirschsprung's Disease - Can Genetic Mosaicism Due to Early Somatic Mutations, Explain Disease Development?
- Status
- Unknown
- Phase
- —
- Study type
- Observational
- Enrollment
- 90 (estimated)
- Sponsor
- Erasmus Medical Center · Academic / Other
- Sex
- All
- Age
- 18 Years
- Healthy volunteers
- Accepted
Summary
Hirschsprung's disease is a complex genetic disorder. The etiology of this disease is not completely understood. It is characterized by the absence of ganglia (nerve cells) in de distal colon. This impairs bowel relaxation which can lead to bowel disfunction, toxic megacolon, ileus and enterocolitis. So far, several genes have been identified that play a role in Hirschsprung's disease. The precise mechanisms however, remain unclear. This study wants to identify new mutations and hopefully clarify more about the etiology of the disease.
Conditions
Timeline
- Start date
- 2013-04-01
- Primary completion
- 2020-12-01
- Completion
- 2021-08-01
- First posted
- 2013-08-23
- Last updated
- 2017-04-07
Locations
2 sites across 1 country: Netherlands
Source: ClinicalTrials.gov record NCT01927809. Inclusion in this directory is not an endorsement.