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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.
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| Measure | Description | Time Frame |
|---|---|---|
| New somatic mutation | 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) |
| Measure | Description | Time Frame |
|---|---|---|
| Correlation disease type | 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) |
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Inclusion Criteria:
Exclusion Criteria:
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Patients will be selected in the two participating hospitals. The Erasmus MC - Sophia Children's hospital and the UMC St. Radboud.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Katherine MacKenzie | Contact | +31107044473 | k.mackenzie@erasmusmc.nl |
| Name | Affiliation | Role |
|---|---|---|
| Rhiana Garritsen, MD | Erasmus MC - Sophia | Principal Investigator |
| Katherine MacKenzie | Erasmus Medical Center | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| UMC St Radboud | Recruiting | Nijmegen | Gelderland | 6525GA | Netherlands |
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| ID | Term |
|---|---|
| D006627 | Hirschsprung Disease |
| D030342 | Genetic Diseases, Inborn |
| ID | Term |
|---|---|
| D004065 | Digestive System Abnormalities |
| D004066 | Digestive System Diseases |
| D008531 | Megacolon |
| D003108 | Colonic Diseases |
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Blood samples, skin tissue, colon tissue
| Erasmus Medical Center - Sophia | Recruiting | Rotterdam | South Holland | 3015GJ | Netherlands |
|
| D007410 |
| Intestinal Diseases |
| D005767 | Gastrointestinal Diseases |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |