Genetic Mosaicism in Hirschsprung's Disease

NCT01927809 | Unknown

• 1 other identifier: NL42585.078.12
• Study Type: observational
• Target: 90
• Locations: 1 country
• Sites: 2

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.

Conditions

Hirschsprung Disease

Keywords

Hereditary Diseases; Colon

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (1)

• Correlation disease type

  At the end of the study (approximately 3 years after inclusion of first patient)

Eligibility Criteria

• Age: Up to 18 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Patients will be selected in the two participating hospitals. The Erasmus MC - Sophia Children's hospital and the UMC St. Radboud.

You may qualify if:

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

You may not qualify if:

• None

Sponsors & Collaborators

• Erasmus Medical Center: lead

Study Sites (2)

UMC St Radboud

Nijmegen, Gelderland, 6525GA, Netherlands

RECRUITING

Erasmus Medical Center - Sophia

Rotterdam, South Holland, 3015GJ, Netherlands

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Blood samples, skin tissue, colon tissue

MeSH Terms

Conditions

Hirschsprung Disease; Genetic Diseases, Inborn

Condition Hierarchy (Ancestors)

Digestive System Abnormalities; Digestive System Diseases; Megacolon; Colonic Diseases; Intestinal Diseases; Gastrointestinal Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Rhiana Garritsen, MD

  Erasmus MC - Sophia

  PRINCIPAL INVESTIGATOR

• Katherine MacKenzie

  Erasmus Medical Center

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Katherine MacKenzie

CONTACT

+31107044473; k.mackenzie@erasmusmc.nl

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: MD

Study Record Dates

• First Submitted: July 8, 2013
• First Posted: August 23, 2013
• Study Start: April 1, 2013
• Primary Completion: December 1, 2020
• Study Completion: August 1, 2021
• Last Updated: April 7, 2017

Record last verified: 2017-04

Locations

NL (2)