Genetic Mosaicism in Hirschsprung's Disease

Status Recruiting

Clinical Trial 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.

Clinical Trial Description

n/a

Study Design

Related Conditions & MeSH terms

Hirschsprung Disease

Clinical Trial Details

NCT number	NCT01927809
Study type	Observational
Source	Erasmus Medical Center
Contact	Katherine MacKenzie
Phone	+31107044473
Email	k.mackenzie@erasmusmc.nl
Status	Recruiting
Phase	N/A
Start date	April 2013
Completion date	August 2021

View Details

See also
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