Status:
COMPLETED
Protein Synthesis in the Brain of Patients With Fragile X Syndrome
Lead Sponsor:
National Institute of Mental Health (NIMH)
Conditions:
Fragile X Syndrome
Healthy Volunteers
Eligibility:
MALE
18-24 years
Brief Summary
Biosynthesis of proteins is essential for growth and continued maintenance of the entire neuron including axons, dendrites, and synaptic terminals, and it is clearly one of the important biochemical p...
Detailed Description
Biosynthesis of proteins is essential for growth and continued maintenance of the entire neuron including axons, dendrites, and synaptic terminals, and it is clearly one of the important biochemical p...
Eligibility Criteria
Inclusion
- INCLUSION CRITERIA:
- Fragile X subjects:
- Male subjects, 18-24 years of age, with diagnosis of fragile X syndrome will be considered. Diagnosis will be confirmed by molecular genetic testing. Subjects with CGG repeat sequences greater than 200 and methylation of FMR1 will be included.
- Control:
- Male subjects, 18-24 years of age will be considered.
- EXCLUSION CRITERIA:
- Fragile X subjects:
- Fragile X subjects with a high level of repeat size or methylation mosaicism will be excluded. Fragile X subjects on psychotropic medications will be excluded from the study. Fragile X subjects who have received radiation doses for research purposes exceeding 4 rem (whole body effective dose) in the previous 12 months will be excluded. Fragile X subjects in whom MRI is contraindicated will be excluded. Subjects with metal objects in their bodies, such as pacemakers, aneurysm clips (metal clips on the wall of a large artery), metallic prostheses, cochlear implants, or shrapnel fragments will be excluded from the study. Welders and metal workers at risk for eye injury because of unsuspected tiny metal fragments there will also be excluded. Subjects in whom sedation is contraindicated will be excluded. Fragile X subjects on medications that interfere with blood coagulation will be excluded (see Appendix 1). In addition, fragile X subjects with respiratory illnesses or cardiovascular diseases will be excluded as there might be increased risk of complications with sedation/anesthesia.
- Control:
- Subjects with premutation alleles, i.e., repeat length between 55 and 200 will be excluded. Subjects with IQ less than 90 or subnormal language skills will be excluded. Subjects on psychotropic medication will be excluded from the study. Subjects who have received radiation doses for research purposes exceeding 3.5 rem (whole body effective dose) in the previous 12 months and subjects for whom MRI is contraindicated will be excluded. Subjects in whom sedation is contraindicated will be excluded from Part II. Subjects on medications that interfere with blood coagulation will be excluded (see Appendix 1). Subjects with any previous history of psychiatric or neurological disease, as assessed by the Structured Clinical Interview for DSM-IV (SCID), will be excluded. In addition, subjects with respiratory illnesses or cardiovascular diseases will be excluded from Part II as there might be increased risk of complications with sedation/anesthesia. Subjects positive for HIV will be excluded from the study. Subjects with positive results on the urine drug screen will be excluded.
Exclusion
Key Trial Info
Start Date :
August 22 2006
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
May 1 2020
Estimated Enrollment :
147 Patients enrolled
Trial Details
Trial ID
NCT00362843
Start Date
August 22 2006
End Date
May 1 2020
Last Update
October 8 2024
Active Locations (1)
Enter a location and click search to find clinical trials sorted by distance.
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892