Genetic Mosaicism in Hirschsprung's Disease

Hirschsprung Disease Clinical Trial

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT01927809
• Other study ID #: NL42585.078.12
• Status: Recruiting
• Phase: N/A
• First received: July 8, 2013
• Last updated: April 6, 2017
• Start date: April 2013
• Est. completion date: August 2021

Study information

• Verified date: April 2017
• Source: Erasmus Medical Center
• Contact: Katherine MacKenzie
• Phone: +31107044473
• Email: k.mackenzie[@]erasmusmc.nl
• Is FDA regulated: No
• Study type: Observational

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 90
• Est. completion date: August 2021
• Est. primary completion date: December 2020
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: N/A to 18 Years

Eligibility

Inclusion Criteria:

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

Exclusion Criteria:

Related Conditions & MeSH terms

• Hirschsprung Disease

Locations

Country	Name	City	State
Netherlands	UMC St Radboud	Nijmegen	Gelderland
Netherlands	Erasmus Medical Center - Sophia	Rotterdam	Zuid-Holland

Sponsors (1)

Lead Sponsor	Collaborator
Erasmus Medical Center

Country where clinical trial is conducted

Netherlands, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	New somatic mutation	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.	During surgery (coolection); after inclusion of approx. 25 patients (preliminairy analysis); final analysis after end of the study (approx. 3 years from first inclusion)
Secondary	Correlation disease type	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.	At the end of the study (approximately 3 years after inclusion of first patient)