Functional consequences of decreased RNA expression of certain GABA(A) receptor subunits in fragile X patients using Positron Emission Tomography and [11C]flumazenil. - PET-FRAX-GABA

Conditions: Fragile X syndrome is the most common form of inherited mental retardation with a prevalence of 1/4000 males and 1/6000 females. Patients are characterized by a mild to severe form of cognitive impairment and light dysmorphic features. Autism-like behaviour, hyperactivity and epilepsy can also be associated with the disease. On the molecular level the disease is caused by a dynamic mutation of a CGG repeat in the 5' UTR of the FMR1 gene.

Registration Number: EUCTR2008-003287-18-BE

Lead Sponsor: niversity Antwerp

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Authorised-recruitment may be ongoing or finished

Sex: Male

Target Recruitment: Not specified

Inclusion Criteria

Controls:
Males between 18-50 years old, general good health after physical examination and routine laboratory analysis, normal T1 and T2 brain MRI, body weight.
Patients:
Males between 16-50 years old, need to be approved by the investigators to undergo a 60 minutes PET imaging study.

Are the trial subjects under 18? yes
Number of subjects for this age range:
F.1.2 Adults (18-64 years) yes
F.1.2.1 Number of subjects for this age range
F.1.3 Elderly (>=65 years) no
F.1.3.1 Number of subjects for this age range

Exclusion Criteria

Controls and patients:
Drug abuse, hypersensitivity to drugs or flumazenil or benzodiazepines.
No history of other neurological or psychiatric abnormalities or any other major internal abnormality.
Medication which interacts with the GABA-system, in particular sleep enhancing medication, is not allowed within two weeks before and after the study, neither
drinking more than 3 caffein-containing glasses.
Current smokers (more than 5 sigarettes per day) and smokers who quitted less than three months ago will be excluded.
Alcohol is prohibited as from 2 days before the beginning of the study.