Genetics of Hirschsprung's Disease - Can Genetic Mosaisicm Due to Early Somatic Mutations Explain Disease Development?

Completed

• Conditions: Congenital intestinal aganglionosis; congenital megacolon; 10018018; 10017977

• Registration Number: NL-OMON41360
• Lead Sponsor: Erasmus MC, Universitair Medisch Centrum Rotterdam

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 29 April 2024

Recruitment & Eligibility

• Status: Completed
• Sex: Not specified
• Target Recruitment: 105

Inclusion Criteria

Patients with Hirschsprung*s Disease undergoing a routine pull through procedure

Exclusion Criteria

Refusal from parents

Study & Design

• Study Type: Observational invasive
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>To identify the existence of genetic mutations that play a role in the<br /><br>development en severity of Hirschsprung*s disease. </p><br>

Secondary Outcome Measures

Name	Time	Method
<p>To identify if genetic mosaicism exists and if this mosaicism contributes to<br /><br>the development of Hirschsprung*s disease. And to identify if the found genetic<br /><br>mutations can be linked to the type of Hirschsprung*s disease and the chance to<br /><br>develop post-operative enterocolitis.</p><br>