To identify new genetic mutations that contribute to the development of Hirschsprung*s disease
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
To identify the existence of genetic mutations that play a role in the
development en severity of Hirschsprung*s disease.
Secondary outcome
To identify if genetic mosaicism exists and if this mosaicism contributes to
the development of Hirschsprung*s disease. And to identify if the found genetic
mutations can be linked to the type of Hirschsprung*s disease and the chance to
develop post-operative enterocolitis.
Background summary
Hirschsprung*s disease is a complex genetic disorder of which the etiology is
not completely understood. It is characterized by an aganglionosis (absence of
enteric ganglia) of the colon. This impairs the relaxation of the bowel. This
can lead to serious complications such as defecation problems, toxic megacolon,
ileus and enterocolitis. The treatment is surgical removal of the aganglionic
bowel. Despite this operation there*s a chance at long term defecation problems
because the most distal part of the rectum at the anal ring can*t be removed
and there a discussion is about the innervation of the proximal part of the
colon just proximal of the resection. If more is known about the etiology of
Hirschsprung*s disease and better identification of the innervation of the
colonsegment proximal of the aganglionosis other therapeutic options might
explored. It also improves the counselling parents and patients will receive by
their treating physians, f.i. in regards to their future children.
Study objective
To identify new genetic mutations that contribute to the development of
Hirschsprung*s disease
Study design
Inventarisational, non-randomized genetic multicenter study. During the routine
therapeutic surgery several biopsies will be obtained for genetic research.
Study burden and risks
The burden and risk of participation in this study is low. Patients will
receive standard therapy. The biopsies performed are a negligible burden for
the patients.
Dr. Molewaterplein 60
Rotterdam 3015 GJ
NL
Dr. Molewaterplein 60
Rotterdam 3015 GJ
NL
Listed location countries
Age
Inclusion criteria
Patients with Hirschsprung*s Disease undergoing a routine pull through procedure
Exclusion criteria
Refusal from parents
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 |
|---|---|
| ClinicalTrials.gov | NCT01927809 |
| CCMO | NL42585.078.12 |