1. Define the clinical spectrum in female carriers of creatine transporter defect. 2. Correlate the clinical phenotype with X-inactivation studies.
ID
Source
Brief title
Condition
- Neurological disorders congenital
- Inborn errors of metabolism
- Mental impairment disorders
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
The investigations will consist of 1.medical and family history, 2.physical
examination, 3. laboratory analysis which will included biochemical analysis of
urine and blood, X-inactivation studies in blood, hairs and saliva, RNA
analysis of the creatine transporter gene and creatine uptake studies in
fibroblasts and EBV-transformed lymphocytes, 4.1H-MRS of brain and 5. a
neuropsychologic evaluation.
Secondary outcome
not appicable
Background summary
The creatine transporter defect is a X-linked cause of mental retardation that
has recently been discovered at the metabolic unit of the department of
clinical chemistry of the VUMC in collaboration with the Cincinnati Children*s
Hospital Medical Center in the USA. Few clinical details have been reported
about the phenotype in female carriers that, due to variable X-inactivation,
can be expected to vary between asymptomatic and severe presentation similar to
affected male patients.
Study objective
1. Define the clinical spectrum in female carriers of creatine transporter
defect. 2. Correlate the clinical phenotype with X-inactivation studies.
Study design
cross-sectional observational study.
Study burden and risks
The burden of the study consists of two invasive procedures (one peripheral
blood sampling and one skin biopsy), the pulling out of 20 hairs, the fact that
it will take up time (two visits of about 3-4 hours) and the possible
psychological burden of being confronted with the carrier status. The results
of the test might be of importance to the subjects as it may give a prediction
of the possible effectiveness of treatment with creatine and its biosynthesis
percursors.
De Boelelaan 1117
1081 HV Amsterdam
Nederland
De Boelelaan 1117
1081 HV Amsterdam
Nederland
Listed location countries
Age
Inclusion criteria
proven carrier of pathogenic mutation in creatine transporter gene.
Exclusion criteria
no informed consent.
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 | NL18019.029.07 |