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Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome

Descriptive Information
Brief Title † Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome
Official Title † Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome
Brief 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.
Study Phase N/A
Study Type † Observational
Study Design † Observational Model: Natural History
Primary Outcome Measure †
Secondary Outcome Measure †
Condition † DiGeorge Syndrome Shprintzen Syndrome Chromosome Abnormalities Abnormalities, Multiple Conotruncal Cardiac Defects
Intervention †
Study Arms / Comparison Groups
Publications *

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information
Recruitment Status †
Estimated Enrollment † 11
Start Date † January 1995
Completion Date
Primary Completion Date
Eligibility Criteria † - Conotruncal cardiac lesion to be repaired by surgery AND Chromosome 22q11 deletion by FISH
Gender Both
Ages N/A - N/A
Accepts Healthy Volunteers No
Contacts ††
Location Countries † United States
Administrative Information
NCT ID † NCT00005102
Organization ID NCRR-M01RR00240-1571
Secondary IDs †† CHP-IRB-95-903, CHP-GCRC-1571
Responsible Party
Study Sponsor † National Center for Research Resources (NCRR)
Collaborators †† Children's Hospital of Philadelphia
Investigators † Study Chair: Kathleen E. Sullivan, Children's Hospital of Philadelphia
Information Provided By
Verification Date December 2003
First Received Date † April 6, 2000
Last Updated Date June 23, 2005
† Required WHO trial registration data element.
†† WHO trial registration data element that is required only if it exists.
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