Status:
COMPLETED
Velocardiofacial (VCFS; 22q11.2; DiGeorge) Syndrome Study
Lead Sponsor:
National Institute of Mental Health (NIMH)
Conditions:
DiGeorge Syndrome
Velocardiofacial Syndrome
Eligibility:
All Genders
18-50 years
Brief Summary
Velocardiofacial syndrome, also known as 22q11.2 syndrome or DiGeorge syndrome, has been associated with many features such as a cleft palate, heart defects, and learning, speech and feeding problems....
Detailed Description
22q11.2 (DiGeorge MIM#188400, Velocardiofacial MIM#192430) syndrome is a hemizygous microdeletion on 22q11.2 of typically 3Mb, encompassing approximately 30 genes and mediated by aberrant homologous r...
Eligibility Criteria
Inclusion
- INCLUSION CRITERIA:
- Only adults between age 18 and 50 will be studied. 22q11.2 participants: 22q11.2 deletion will be confirmed by FISH. IQ (WAIS). In phase 1: IQ in the general range of the population (greater than 85) as ascertained using the 2- and 4-subset forms of the Wechsler Abbreviated Scale of Intelligence (Wechsler, 1999). Informed consent.
- EXCLUSION CRITERIA:
- (Phase 1 only) Any lifetime diagnosis of schizophrenia, schizoaffective disorder, or schizotypal disorder and/or current pychotropic medication or any neuroleptic medication in the previous year. (all phases) Chronological age greater 50 years. Contraindication of MRI scanning (ferromagnetic metal implanted in body, prostheses containing such metal, pacemaker devices). Pregnancy. Medication affecting central nervous function. Severe somatic disorders precluding travel to the clinical center or participation in imaging procedures. Hypothyroidism not compensated by medication. Neurological disorders excluding those of exclusively peripheral location.
Exclusion
Key Trial Info
Start Date :
March 7 2005
Trial Type :
OBSERVATIONAL
End Date :
February 2 2010
Estimated Enrollment :
Patients enrolled
Trial Details
Trial ID
NCT00105274
Start Date
March 7 2005
End Date
February 2 2010
Last Update
July 2 2017
Active Locations (1)
Enter a location and click search to find clinical trials sorted by distance.
1
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892