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Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome

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ClinicalTrials.gov Identifier: NCT00005102
Recruitment Status : Unknown
Verified December 2003 by National Center for Research Resources (NCRR).
Recruitment status was:  Recruiting
First Posted : April 7, 2000
Last Update Posted : June 24, 2005
Sponsor:
Collaborator:
Children's Hospital of Philadelphia
Information provided by:
National Center for Research Resources (NCRR)

April 6, 2000
April 7, 2000
June 24, 2005
January 1995
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No Changes Posted
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Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome
Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome

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.

Observational
Observational Model: Natural History
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  • DiGeorge Syndrome
  • Shprintzen Syndrome
  • Chromosome Abnormalities
  • Abnormalities, Multiple
  • Conotruncal Cardiac Defects
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*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Unknown status
11
Same as current
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  • Conotruncal cardiac lesion to be repaired by surgery AND Chromosome 22q11 deletion by FISH
Sexes Eligible for Study: All
Child, Adult, Older Adult
No
Contact information is only displayed when the study is recruiting subjects
United States
 
 
NCT00005102
NCRR-M01RR00240-1571
CHP-IRB-95-903
CHP-GCRC-1571
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National Center for Research Resources (NCRR)
Children's Hospital of Philadelphia
Study Chair: Kathleen E. Sullivan Children's Hospital of Philadelphia
National Center for Research Resources (NCRR)
December 2003