Genetic Mosaicism in Hirschsprung's Disease

NCT ID: NCT01927809

Last Updated: 2017-04-07

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Total Enrollment

90 participants

Study Classification

OBSERVATIONAL

Study Start Date

2013-04-30

Study Completion Date

2021-08-31

Brief Summary

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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.

Detailed Description

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Conditions

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Hirschsprung Disease

Study Design

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Observational Model Type

OTHER

Study Time Perspective

PROSPECTIVE

Eligibility Criteria

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Inclusion Criteria

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

Exclusion Criteria

* None
Maximum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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Erasmus Medical Center

OTHER

Sponsor Role lead

Responsible Party

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R. Garritsen

MD

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Rhiana Garritsen, MD

Role: PRINCIPAL_INVESTIGATOR

Erasmus MC - Sophia

Katherine MacKenzie

Role: PRINCIPAL_INVESTIGATOR

Erasmus Medical Center

Locations

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UMC St Radboud

Nijmegen, Gelderland, Netherlands

Site Status RECRUITING

Erasmus Medical Center - Sophia

Rotterdam, South Holland, Netherlands

Site Status RECRUITING

Countries

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Netherlands

Central Contacts

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Katherine MacKenzie

Role: CONTACT

+31107044473

Facility Contacts

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Ivo Blaauw, MD, PhD

Role: primary

+31243611111

Katherine MacKenzie

Role: primary

+31107044473

Rhiana Garritsen-Farid

Role: backup

Other Identifiers

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NL42585.078.12

Identifier Type: -

Identifier Source: org_study_id

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