1) to gain insight in the pathophysiological mechanisms leading to intellectual disability and 2) to create a model system which allows screening of therpeutic interventions for efficacy.
ID
Source
Brief title
Condition
- Mental impairment disorders
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
Insight in the pathophysiological mechanisms leading to intellectual
disability.
Secondary outcome
NA
Background summary
Although each individual genetic cause of intellectual disability is rare,
altogether about 1% of the population has some degree of intellectual
disability. Although the genetic cause is known in a subgroup of these
patients, there is usually very little knowledge on the pathophysiological
mechanisms that lead to intellectual disability. An important problem in this
research is the nervous tissue is not accessible. THis problem can now be
overcome using induced pluripotent stem cells.
Study objective
1) to gain insight in the pathophysiological mechanisms leading to intellectual
disability and 2) to create a model system which allows screening of
therpeutic interventions for efficacy.
Study design
Comparing patient cell lines with control cell lines.
Study burden and risks
A single skin biopsy. Typically patients report this to be slightly more
uncomfortable than a blood draw. The risks are minimal.
Albinusdreef 2
RC 2300
NL
Albinusdreef 2
RC 2300
NL
Listed location countries
Age
Inclusion criteria
Intellectual disability
Either known molecular or clinical diagnosis
Exclusion criteria
Geen
Design
Recruitment
metc-ldd@lumc.nl
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 | NL43069.058.12 |