The aim of our study is to further elucidate the role of genetic factors in the pathogenesis of CTS by genetic and functional research.-Objective 1: Unravel the mutational spectrum of genes in patients with idiopathic CTS-Objective 2: Evaluation of…
ID
Source
Brief title
Condition
- Musculoskeletal and connective tissue disorders congenital
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
Mutation spectrum of patients suffering from CTS
Secondary outcome
Not applicable
Background summary
Carpal tunnel syndrome (CTS) is the most common form of peripheral entrapment
neuropathy with a high socio-economic impact on both patient and society.
Although CTS occurs in ~4% of the population, its pathogenesis remains largely
unclear. In the majority of patients no specific cause or underlying condition
can be found. This idiopathic form of CTS is often clustered within families
and has a heritability of 0.46, indicating that genetic factors must play a
role in the pathogenesis of this disorder. The aim of our study is to further
elucidate the role of genetic factors in the pathogenesis of CTS. These new
insights may enhance early diagnosis and provide new therapeutic measures for
CTS.
Study objective
The aim of our study is to further elucidate the role of genetic factors in the
pathogenesis of CTS by genetic and functional research.
-Objective 1: Unravel the mutational spectrum of genes in patients with
idiopathic CTS
-Objective 2: Evaluation of pathways of interest in carpal tunnel syndrome
-Objective 3: Study of the role of genes of interest in the pathogenesis of
bone abnormalities
Study design
Blood samples will be collected from individuals with CTS for genetic research
purposes. During carpal tunnel release surgery, tissue samples (skin,
subsynovial connective tissue, tranversal carpal ligament) will be collected
for funtional validation of interesting genetic variants.
Study burden and risks
Burden:
- 1x informed consent
- 1x questionnaire
- 1x blood sample
- 1 x biopsy of the skin, subsynovial connective tissue, transversal carpal
ligament (during carpal tunnel release, no extra incision needed)
- 1x photocopy of both hands
Risks
Giving a blood sample can be unpleasant since a needle needs to be inserted in
the skin. Formation of a bruise can occur.
Since the transversal carpal ligament will be split during carpal tunnel
release, no risks are involved in collecting small tissue biopsies.
Participation in the study can cause concerns about the heritability of CTS in
the family. When the patient has concerns, the principal investigator can be
contacted. If wanted, the investigator can contact the genetic councelor who
will answer the patients questions to one's best ability. A photocopy of the
hands will not have any health effects.
Prins Boudewijnlaan 43
Edegem 2650
BE
Prins Boudewijnlaan 43
Edegem 2650
BE
Listed location countries
Age
Inclusion criteria
- carpal tunnel syndrome
- age: 18+
Exclusion criteria
Diabetes mellitus
• Amyloïdosis
• Hyperthyroidism
• Rheumatoid arthritis
• Acromegaly
• Lysosomal storage disease
• Obesitas
• Trauma
• Tumor at the level of the wrist
• Injections at the level of the wrist
• Pregnancy
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 | NL57485.075.16 |