Idenification of new Hirschsprung's disease associated genes.
ID
Source
Brief title
Condition
- Gastrointestinal tract disorders congenital
- Gastrointestinal motility and defaecation conditions
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
Identification of new Hirschsprung's disease associated genes.
Secondary outcome
Not applicable
Background summary
Hirschsprung*s disease is a congenital anomaly characterized by the absence of
enteric ganglia along a variable length of the bowel. This causes functional
obstruction which results in severe constipation and/or megacolon proximal of
the aganglionic segment. The current treatment is surgery. Until now around 10
disease associated genes and loci are known which do explain approximately
20/25% of all Hirschsprung cases.
Study objective
Idenification of new Hirschsprung's disease associated genes.
Study design
Genetic analysis of DNA of Hirschsprung patients with Exome sequencing
Study burden and risks
Not applicable.
oostersingel
9700 RB
NL
oostersingel
9700 RB
NL
Listed location countries
Age
Inclusion criteria
Patient: having Hirschsprung*s disease.
Family member: not having Hirschsprung*s disease and having a family member (first degree relative) with Hirschsprung*s disease.
Exclusion criteria
Patient: not having Hirschsprung*s disease.
Family member: not having a family member (first degree relative) with Hirschsprung*s disease.
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL35251.042.11 |