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) ]
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) ]
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