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Genetic Mosaicism in Hirschsprung's Disease

NCT01927809 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 90

Last updated 2017-04-07

No results posted yet for this study

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.

Conditions

  • Hirschsprung Disease

Sponsors & Collaborators

Principal Investigators

  • Rhiana Garritsen, MD · Erasmus MC - Sophia

  • Katherine MacKenzie · Erasmus Medical Center

Eligibility

Max Age
18 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2013-04-30
Primary Completion
2020-12-31
Completion
2021-08-31

Countries

  • Netherlands

Study Locations

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Entities

Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01927809 on ClinicalTrials.gov