Velocardiofacial (VCFS; 22q11.2; DiGeorge) Syndrome Study
Completed
Conditions studied: DiGeorge Syndrome, Velocardiofacial Syndrome, 22q11.2 Syndrome
In brief
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. It is caused by the absence of a number of genes on chromosome 22, but the mechanism by which this inborn abnormality causes the clinical problems is not known. In this study by the National Institute of Mental Health and the Office of Rare Diseases, we are recruiting participants with 22q11.2 syndrome to come for a three-day stay to our main campus in Bethesda, MD, to participate in a study in which we will investigate the genetic makeup of their cells together with several studies of brain function with advanced research imaging. The goal of this study is to understand how the genes missing in 22q11.2 syndrome are related to the increased occurrence of psychiatric problems, such as psychosis, in this syndrome. Participants must be 18-50 years of age, have some high school education and not currently be taking antipsychotic medication. Travel costs to Bethesda for participants and an accompanying person will be paid, and participants are reimbursed for their time in participating in the study. A blood draw is required. All research procedures have been designated as "minimal risk" procedures. ...
Key facts
- Study ID
- NCT00105274
- Run by
- National Institute of Mental Health (NIMH)
- Starts
- 2005-03-07
- Expected to finish
- 2010-02-02
- Last updated by the study team
- 2017-07-02
Who can join
Age: 18 and older, up to 50. Sex: any. Healthy volunteers: accepted.
You may not qualify if…
- (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.
Where it is running
- National Institutes of Health Clinical Center, 9000 Rockville Pike — Bethesda, Maryland, United States
Full record on ClinicalTrials.gov
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