Genetic Mosaicism in Hirschsprung's Disease

April 6, 2017 updated by: R. Garritsen, Erasmus Medical Center

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

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.

Study Overview

Status

Unknown

Conditions

Study Type

Observational

Enrollment (Anticipated)

90

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • Netherlands
    • Gelderland
      • Nijmegen, Gelderland, Netherlands, 6525GA
        • Recruiting
        • UMC St Radboud
        • Contact:
        • Principal Investigator:
          • Ivo Blaauw, MD
    • Zuid-Holland
      • Rotterdam, Zuid-Holland, Netherlands, 3015GJ
        • Recruiting
        • Erasmus Medical Center - Sophia
        • Contact:
        • Contact:
        • Principal Investigator:
          • Rhiana Garritsen-Farid, MD
        • Principal Investigator:
          • Katherine MacKenzie

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

No older than 18 years (Child, Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

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.

Description

Inclusion Criteria:

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

Exclusion Criteria:

  • None

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Other
  • Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
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 Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
At the end of the study (approximately 3 years after inclusion of first patient)

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Erasmus Medical Center

Investigators

  • Principal Investigator: Rhiana Garritsen, MD, Erasmus MC - Sophia
  • Principal Investigator: Katherine MacKenzie, Erasmus MC

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

April 1, 2013

Primary Completion (Anticipated)

December 1, 2020

Study Completion (Anticipated)

August 1, 2021

Study Registration Dates

First Submitted

July 8, 2013

First Submitted That Met QC Criteria

August 20, 2013

First Posted (Estimate)

August 23, 2013

Study Record Updates

Last Update Posted (Actual)

April 7, 2017

Last Update Submitted That Met QC Criteria

April 6, 2017

Last Verified

April 1, 2017

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • NL42585.078.12

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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