This study aims to make a cognitive profile of dutch LGMD2A patients.
ID
Source
Brief title
Condition
- Congenital and hereditary disorders NEC
- Muscle disorders
- Neuromuscular disorders
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
Deviations from the norm for the cognitive functions mentioned in the
background.
Secondary outcome
Not applicable
Background summary
LGMD2A is a muscle dystrophy caused by changes in the calpain 3 gene. This gene
is also found in the hippocampus and the corpus callosum of rats' brains. In
humans, the hippocampus and the corpus callosum play an important role in such
cognitive functions as arousal, attention and concentration, declarative
memory, and visuospatial and visuoperceptual abilities.
Research findings suggest that changes in calpain 3 can lead to changes in the
functions of the concerned tissues and systems. Based on this, this study will
test the hypothesis that lack of or changes in calpain 3 in the hippocampus and
the corpus callosum lead to deviations in cognitive functions associated with
these areas.
Study objective
This study aims to make a cognitive profile of dutch LGMD2A patients.
Study design
Neuropsychological research:
The research consists of a series of neuropsychological tests. The selected
tests are aimed to test thec ognitive functions mentioned in the background.
The following tests will be conducted: Verbal Learning and Memory Test (VLGT);
key search and shift-rule test of the Behavioural Assessment of Dysexecutive
Syndrome (BADS); picture arrangement, digit span, and picture completion of the
Weschler Adult Intelligence Scale (WAIS); visual memory span of the Weschler
Memory Scale (WMS); face recognition and picture recognition of the Rivermead
Behavioural Memory Test (RBMT); word fluency of the Groninger Intelligence Test
(GIT); and the Stroop Colour-Word test.
Data analys: The data will be analysed quantitatively and qualitatively.
Research duration: 5 months.
Feedback: Participants will receive an abstract of the final report.
Protocol in case of patient resistance: A patient can at any moment decide to
stop with the research.
Privacy: Results will be coded in a way that they would not directly lead to
the identity of the individual patient.
Research organisation:
The research team consists of the following:
Principal researcher:
Dr. Anneke J. van der Kooi, M.D., Ph.D., Academic Medical Centre, University
of
Amsterdam
Executing researchers:
Prof. Dr. Erik J.A. Scherder, Ph.D., Professor Clinical
Neuropsychology,
Vrije Universiteit Amsterdam
Lyzel S. Elias-Sonnenschein, M.A., Department of Clinical
Neuropsychology,
Vrije Universiteit Amsterdam
Vladimir Vladimirov, M.A., Department of Neuroscience, Vrije Universiteit
Amsterdam
Study burden and risks
Testing takes about 2,5 hours and will be done at the patients' home.
There are no risks involved in this research.
Meibergdreef 9
1105 AZ Amsterdam
Nederland
Meibergdreef 9
1105 AZ Amsterdam
Nederland
Listed location countries
Age
Inclusion criteria
LGMD2A is genetically proven
Dutch citizen
Dutch speaking
Physically able to participate in the reseach
Exclusion criteria
LGMD2A not genetically proven
Not able to understand and express in dutch sufficiently
Physically unable to participate in the research
Design
Recruitment
Medical products/devices used
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 | NL12097.018.06 |