Clinical Trial: Genetic Mosaicism in Hirschsprung's Disease

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

Official Title: Genetics of Hirschsprung's Disease - Can Genetic Mosaicism Due to Early Somatic Mutations, Explain Disease Development?

Brief 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.

Detailed Summary:
Sponsor: Erasmus Medical Center

Current Primary Outcome: New somatic mutation [ Time Frame: During surgery (coolection); after inclusion of approx. 25 patients (preliminairy analysis); final analysis after end of the study (approx. 3 years from first inclusion) ]

Primary outcome measure of this study is to identify new (previously unknown) somatic mutations as a cause for the development of Hirschsprung's disease. Tissue to find these mutations will be gathered during surgery for all patients (see protocol). When sufficient samples are collected (est 25 samples) a first comparative analysis for new somatic mutations will be performed. After the end of the study a final analysis for new somatic mutation will be performed.


Original Primary Outcome: Same as current

Current Secondary Outcome: Correlation disease type [ Time Frame: At the end of the study (approximately 3 years after inclusion of first patient) ]

Secondary outcome measure is to assess if any of the found mutations can be correlated with the type of Hirschsprung's disease (i.e. long-segment, short segment). This will be done after all patients DNA is analysed for somatic mutations after closure of the study.


Original Secondary Outcome: Same as current

Information By: Erasmus Medical Center

Dates:
Date Received: July 8, 2013
Date Started: April 2013
Date Completion: August 2021
Last Updated: April 6, 2017
Last Verified: April 2017