Identification of the causative gene for CSBS.
ID
Source
Brief title
Condition
- Chromosomal abnormalities, gene alterations and gene variants
- Gastrointestinal motility and defaecation conditions
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
Identification of the causative gene for CSBS
Secondary outcome
Geen
Background summary
Congenital Short Bowel Syndrome (CSBS) is a rare gastrointestinal disorder.
Children are born with a shortened small intestine what leads to severe
malabsorption problems. The only described symptomatic treatment is parenteral
nutrition. Because this treatment often gives complications, i.e. infections
and liver failure, many children die.
In literature around 40 patients have been published. Often siblings are
affected and often the parents are consanguineus, this makes a autosomal
recessive pattern of inheritence very likely.
Study objective
Identification of the causative gene for CSBS.
Study design
Genetic analysis of the DNA of the families with homozygosity mapping and
sequence analysis
Study burden and risks
nvt
Ingang 47 a/d oostersingel, Postbus 30001
9700 RB
NL
Ingang 47 a/d oostersingel, Postbus 30001
9700 RB
NL
Listed location countries
Age
Inclusion criteria
Patient: Diagnosis of Congenital Short Bowel Syndrome
Family member: Being a family member of a patient with Congenital Short Bowel Syndrome
Exclusion criteria
Patient: Not a diagnosis of Congenital Short Bowel Syndrome
Family member: not being a family member of a patient with Congenital Short Bowel Syndrome
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 | NL31708.042.10 |