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Genetic Mosaicism in Hirschsprung's Disease

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ClinicalTrials.gov Identifier: NCT01927809
Recruitment Status : Recruiting
First Posted : August 23, 2013
Last Update Posted : April 7, 2017
Sponsor:
Information provided by (Responsible Party):

Study Description
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.

Condition or disease
Hirschsprung Disease

Study Design

Study Type : Observational
Estimated Enrollment : 90 participants
Observational Model: Other
Time Perspective: Prospective
Official Title: Genetics of Hirschsprung's Disease - Can Genetic Mosaicism Due to Early Somatic Mutations, Explain Disease Development?
Study Start Date : April 2013
Estimated Primary Completion Date : December 2020
Estimated Study Completion Date : August 2021


Groups and Cohorts


Outcome Measures

Primary Outcome Measures :
  1. 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 :
  1. 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

Eligibility Criteria

Information from the National Library of Medicine

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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.
Criteria

Inclusion Criteria:

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

Exclusion Criteria:

Contacts and Locations

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01927809


Contacts
Contact: Katherine MacKenzie +31107044473 k.mackenzie@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: Katherine MacKenzie    +31107044473    k.mackenzie@erasmusmc.nl   
Contact: Rhiana Garritsen-Farid       r.garritsen@erasmusmc.nl   
Principal Investigator: Rhiana Garritsen-Farid, MD         
Principal Investigator: Katherine MacKenzie         
Sponsors and Collaborators
Erasmus Medical Center
Investigators
Principal Investigator: Rhiana Garritsen, MD Erasmus MC - Sophia
Principal Investigator: Katherine MacKenzie Erasmus MC
More Information

Responsible Party: R. Garritsen, MD, Erasmus Medical Center
ClinicalTrials.gov Identifier: NCT01927809     History of Changes
Other Study ID Numbers: NL42585.078.12
First Posted: August 23, 2013    Key Record Dates
Last Update Posted: April 7, 2017
Last Verified: April 2017

Keywords provided by R. Garritsen, 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