To assess the skeletal health of FAP patients.
ID
Source
Brief title
Condition
- Chromosomal abnormalities, gene alterations and gene variants
- Benign neoplasms gastrointestinal
- Gastrointestinal neoplasms benign
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
The potential effect of genetic abnormalities in the APC gene on bone mineral
density in patients with Familial Adenomatous Polyposis (FAP).
Secondary outcome
The potential effect of genetic abnormalities in the APC gene in FAP patients on
- bone and mineral metabolism
- prevalence of fractures
- prevalence of joint disorders.
Background summary
The rationale for this pilot study is based on the increasing evidence linking
deregulated canonical Wnt signaling pathway with abnormal bone mass and with
increased incidence of skeletal disease. FAP patients carry APC mutations that
will constantly result in a constitutively active Wnt signaling. The question
arises whether APC, the key intracellular gate-keeper controlling Wnt/β-catenin
turnover, is ultimately involved in the regulation of bone mass.
Study objective
To assess the skeletal health of FAP patients.
Study design
All investigations will be conducted in the LUMC:
- medical history
- physical examination
- skeletal scintigraphy
- laboratory investigations for bone and mineral metabolism
- dual X-ray absorptiometry (DEXA) to measure the bone mineral density
- in case of possible skeletal pathological condition(s) detected upon physical
examination, skeletal scintigraphy or DEXA, an X-ray of the region(s) of
interest will be performed to further investigate and confirm the nature of the
lesion(s).
Study burden and risks
Not applicable.
Albinusdreef 2
2333 ZA, Leiden
Nederland
Albinusdreef 2
2333 ZA, Leiden
Nederland
Listed location countries
Age
Inclusion criteria
- Genetically and histologically documented diagnosis of FAP
- Informed consent
Exclusion criteria
- Use of bisphosphonates in the last 3 years
- Current use of PTH (1-34 or 1-84)
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 | NL21922.058.08 |