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.
Conditions
Interventions
Product Name: 11C-flumazenil
Pharmaceutical Form: Injection*
Sponsors
University Antwerp
University Hospital Leuven gasthuisberg
Eligibility
Sex/Gender
Male
Inclusion criteria
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
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.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Main Objective: It is our aim to investigate the functional consequences of our previous findings from animal studies, i.e. the physiological consequences of decreased expression of specific GABA(A)receptor subunits. Using Positron Emission Tomography (PET) with [11C]flumazenil we want to image and quantify the GABA(A)receptor distribution in fragile X patients and compare this with controls. ;Secondary Objective: Using a battery of tests such as 24h EEG control, movement analysis, neuropsychological tests and a MRI scan, we would like to measure neuropsychologic (cognitive impairment, executive functioning) and behavioural (gait ataxia, action tremor, parkinsonism, neuropathy, autonomic failure..) parameters to investigate a behavioural correlaton of the regional PET GABA(A)receptor findings between patients and controls. ;Primary end point(s): 1/ Image quantification of GABA-A receptor binding in Fragile X patients versus controls 2/ relationship of any clinical abnormality to (decreased) GABA-A receptor binding | — |
Countries
Belgium
Outcome results
None listed