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Genetic Mosaicism in Hirschsprung's Disease

This study is currently recruiting participants.
See Contacts and Locations
Verified April 2017 by R. Garritsen, Erasmus Medical Center
Information provided by (Responsible Party):
R. Garritsen, Erasmus Medical Center Identifier:
First received: July 8, 2013
Last updated: April 6, 2017
Last verified: April 2017
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.

Hirschsprung Disease

Study Type: Observational
Study Design: Observational Model: Other
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 R. Garritsen, 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) ]
    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) ]
    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: 90
Study Start Date: April 2013
Estimated Study Completion Date: August 2021
Estimated Primary Completion Date: December 2020 (Final data collection date for primary outcome measure)

Ages Eligible for Study:   up to 18 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
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.

Inclusion Criteria:

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

Exclusion Criteria:

  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 identifier: NCT01927809

Contact: Katherine MacKenzie +31107044473

UMC St Radboud Recruiting
Nijmegen, Gelderland, Netherlands, 6525GA
Contact: Ivo Blaauw, MD, PhD    +31243611111   
Principal Investigator: Ivo Blaauw, MD         
Erasmus Medical Center - Sophia Recruiting
Rotterdam, Zuid-Holland, Netherlands, 3015GJ
Contact: Katherine MacKenzie    +31107044473   
Contact: Rhiana Garritsen-Farid   
Principal Investigator: Rhiana Garritsen-Farid, MD         
Principal Investigator: Katherine MacKenzie         
Sponsors and Collaborators
Erasmus Medical Center
Principal Investigator: Rhiana Garritsen, MD Erasmus MC - Sophia
Principal Investigator: Katherine MacKenzie Erasmus MC
  More Information

Responsible Party: R. Garritsen, MD, Erasmus Medical Center Identifier: NCT01927809     History of Changes
Other Study ID Numbers: NL42585.078.12
Study First Received: July 8, 2013
Last Updated: April 6, 2017

Keywords provided by R. Garritsen, Erasmus Medical Center:
Hereditary Diseases

Additional relevant MeSH terms:
Hirschsprung Disease
Digestive System Abnormalities
Digestive System Diseases
Colonic Diseases
Intestinal Diseases
Gastrointestinal Diseases
Congenital Abnormalities processed this record on September 21, 2017