Genetic Mosaicism in Hirschsprung's Disease

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

Status

UNKNOWN

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT01927809

Enrollment

Registered

2013-08-23

Start date

2013-04-30

Completion date

2021-08-31

Last updated

2017-04-07

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Hirschsprung Disease

Keywords

Hereditary Diseases, Colon

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.

Interventions

None listed

Study design

Observational model

OTHER

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

No minimum to 18 Years

Healthy volunteers

Yes

Inclusion criteria

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

Exclusion criteria

* None

Design outcomes

Primary

Measure	Time frame	Description
New somatic mutation	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

Measure	Time frame	Description
Correlation disease type	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.

Countries

Netherlands

Contacts

Primary ContactKatherine MacKenzie

k.mackenzie@erasmusmc.nl+31107044473

Outcome results