Genetic Mosaicism in Hirschsprung's Disease

This study is currently recruiting participants. (see Contacts and Locations)
Verified August 2013 by Erasmus Medical Center
Sponsor:
Information provided by (Responsible Party):
R. Garritsen, Erasmus Medical Center
ClinicalTrials.gov Identifier:
NCT01927809
First received: July 8, 2013
Last updated: August 20, 2013
Last verified: August 2013
  Purpose

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.


Condition
Hirschsprung Disease

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Genetics of Hirschsprung's Disease - Can Genetic Mosaicism Due to Early Somatic Mutations, Explain Disease Development?

Resource links provided by NLM:


Further study details as provided by Erasmus Medical Center:

Primary Outcome Measures:
  • New somatic mutation [ Time Frame: During surgery (coolection); after inclusion of approx. 25 patients (preliminairy analysis); final analysis after end of the study (approx. 3 years from first inclusion) ] [ Designated as safety issue: No ]
    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:
  • Correlation disease type [ Time Frame: At the end of the study (approximately 3 years after inclusion of first patient) ] [ Designated as safety issue: No ]
    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.


Biospecimen Retention:   Samples With DNA

Blood samples, skin tissue, colon tissue


Estimated Enrollment: 42
Study Start Date: April 2013
Estimated Study Completion Date: December 2015
Estimated Primary Completion Date: December 2015 (Final data collection date for primary outcome measure)
  Eligibility

Ages Eligible for Study:   up to 18 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
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.

Criteria

Inclusion Criteria:

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

Exclusion Criteria:

  • None
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01927809

Contacts
Contact: Rhiana Garritsen-Farid, MD +31107044473 r.garritsen@erasmusmc.nl

Locations
Netherlands
UMC St Radboud Recruiting
Nijmegen, Gelderland, Netherlands, 6525GA
Contact: Ivo Blaauw, MD, PhD    +31243611111    i.deblaauw@chi.umcn.nl   
Principal Investigator: Ivo Blaauw, MD         
Erasmus Medical Center - Sophia Recruiting
Rotterdam, Zuid-Holland, Netherlands, 3015GJ
Contact: Rhiana Garritsen-Farid, MD    +31107044473    r.garritsen@erasmusmc.nl   
Principal Investigator: Rhiana Garritsen-Farid, MD         
Sponsors and Collaborators
Erasmus Medical Center
Investigators
Principal Investigator: Rhiana Garritsen, MD Erasmus MC - Sophia
  More Information

No publications provided

Responsible Party: R. Garritsen, MD, Erasmus Medical Center
ClinicalTrials.gov Identifier: NCT01927809     History of Changes
Other Study ID Numbers: NL42585.078.12
Study First Received: July 8, 2013
Last Updated: August 20, 2013
Health Authority: Netherlands: Medical Ethics Review Committee (METC)

Keywords provided by Erasmus Medical Center:
Hereditary Diseases
Colon

Additional relevant MeSH terms:
Hirschsprung Disease
Digestive System Abnormalities
Digestive System Diseases
Megacolon
Colonic Diseases
Intestinal Diseases
Gastrointestinal Diseases
Congenital Abnormalities

ClinicalTrials.gov processed this record on September 18, 2014