Trials / Unknown
UnknownNCT00005102
Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome
- Status
- Unknown
- Phase
- —
- Study type
- Observational
- Enrollment
- 11 (planned)
- Sponsor
- National Center for Research Resources (NCRR) · NIH
- Sex
- All
- Age
- 0 Years
- Healthy volunteers
- Not accepted
Summary
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.
Detailed description
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.
Conditions
- DiGeorge Syndrome
- Shprintzen Syndrome
- Chromosome Abnormalities
- Abnormalities, Multiple
- Conotruncal Cardiac Defects
Timeline
- Start date
- 1995-01-01
- First posted
- 2000-04-07
- Last updated
- 2005-06-24
Locations
1 site across 1 country: United States
Source: ClinicalTrials.gov record NCT00005102. Inclusion in this directory is not an endorsement.