Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome

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

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 Pre-specified Outcome Measures: Not Provided
• Original Other Pre-specified 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

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

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