An observational study in DiGeorge Syndrome, Shprintzen Syndrome and Chromosome Abnormalities, sponsored by National Center for Research Resources (NCRR). Status unknown at 1 site in United States. Open to participants aged 0 Years and older. Per ClinicalTrials.gov, last updated 2005-06-24.
Sponsored by National Center for Research Resources (NCRR) · Observational
OBJECTIVES:
I. Determine the pattern of immunologic reconstitution in patients with T-cell compromise due to DiGeorge syndrome or velocardiofacial syndrome.
II. Determine any correlation between immunologic function in these patients and chromosome 22 deletion breakpoints.
III. Determine presence of sustained immunologic compromise in older patients.
PROTOCOL OUTLINE:
Blood samples are collected at diagnosis of chromosome 22q11 deletion and assessed for lymphocyte proliferation in response to mitogens phytohemagglutinin, pokeweed mitogen, and concanavalin A (mitogen stimulation analyses). These analyses are repeated at 4 months along with a quantitative analysis of immunoglobulin.
At 8 months, patients are tested for their lymphocytes' ability to respond to antigens (candida, tetanus, and diphtheria). At 1 year, patients have lymphocyte subset, IgG, IgA, and IgM analyses performed. Quantitative evaluations of antibody titers to diphtheria, tetanus, Haemophilus influenza, and hepatitis B are also performed.
Over 1 year of age, all studies are performed if the patient is seen for a single visit.
47 studies on the registry are indexed under DiGeorge Syndrome; 11 are open to participants now.
This study's enrollment of 11 is below the median of 175 across 17 observational studies indexed under DiGeorge Syndrome.
Browse DiGeorge Syndrome studies →National Center for Research Resources (NCRR) is the lead sponsor of 265 studies on the registry; none are open to participants now.
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This study is status unknown, as verified in Dec 2003. You cannot join it, but the record below documents what was studied.
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