Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome

Tracking Information
First Submitted Date	April 6, 2000
First Posted Date	April 7, 2000
Last Update Posted Date	June 24, 2005
Study Start Date	January 1995
Primary Completion Date	Not Provided
Current Primary Outcome Measures	Not Provided
Original Primary Outcome Measures	Not Provided
Change History	No Changes Posted
Current Secondary Outcome Measures	Not Provided
Original Secondary Outcome Measures	Not Provided
Current Other Outcome Measures	Not Provided
Original Other Outcome Measures	Not Provided
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 Type	Observational
Study Design	Observational Model: Natural History
Target Follow-Up Duration	Not Provided
Biospecimen	Not Provided
Sampling Method	Not Provided
Study Population	Not Provided
Condition	DiGeorge Syndrome; Shprintzen Syndrome; Chromosome Abnormalities; Abnormalities, Multiple; Conotruncal Cardiac Defects
Intervention	Not Provided
Study Groups/Cohorts	Not Provided
Publications *	Not Provided
* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
Recruitment Information
Recruitment Status	Unknown status
Enrollment; (submitted: June 23, 2005)	11
Original Enrollment	Same as current
Study Completion Date	Not Provided
Primary Completion Date	Not Provided
Eligibility Criteria	Conotruncal cardiac lesion to be repaired by surgery AND Chromosome 22q11 deletion by FISH
Sex/Gender	Sexes Eligible for Study: All
Ages	Child, Adult, Older Adult
Accepts Healthy Volunteers	No
Contacts	Contact information is only displayed when the study is recruiting subjects
Listed Location Countries	United States
Removed Location Countries
Administrative Information
NCT Number	NCT00005102
Other Study ID Numbers	NCRR-M01RR00240-1571; CHP-IRB-95-903; CHP-GCRC-1571
Has Data Monitoring Committee	Not Provided
U.S. FDA-regulated Product	Not Provided
IPD Sharing Statement	Not Provided
Responsible Party	Not Provided
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
PRS Account	National Center for Research Resources (NCRR)
Verification Date	December 2003