Genetic Mosaicism in Hirschsprung's Disease

• Conditions: Hirschsprung Disease

• Registration Number: NCT01927809
• Lead Sponsor: Erasmus Medical Center

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 Description

Not available

Study Timeline

• Study Start: 2013-04
• Study First Submitted: 2013-07-08
• Study First Submitted QC: 2013-08-20
• Study First Posted: 2013-08-23
• Status Verified: 2017-04
• Last Update Submitted: 2017-04-06
• Last Update Posted: 2017-04-07
• Primary Completion: 2020-12
• Study Completion: 2021-08

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 90

Inclusion Criteria

• All children with Hirschsprung's disease that will receive a corrective pull through procedure

Exclusion Criteria

• None

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
New somatic mutation	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.

Secondary Outcome Measures

Name	Time	Method
Correlation disease type	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.

Trial Locations

Locations (2)

UMC St Radboud; 🇳🇱 Nijmegen, Gelderland, Netherlands

Erasmus Medical Center - Sophia; 🇳🇱 Rotterdam, Zuid-Holland, Netherlands