Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome - Tabular View

Tracking Information

First Received Date ^ICMJE

April 6, 2000

Last Updated Date

June 23, 2005

Start Date ^ICMJE

January 1995

Primary Completion Date

Current Primary Outcome Measures ^ICMJE

Original Primary Outcome Measures ^ICMJE

Change History

Complete list of historical versions of study NCT00005102 on ClinicalTrials.gov Archive Site

Current Secondary Outcome Measures ^ICMJE

Original Secondary Outcome Measures ^ICMJE

Descriptive Information

Brief Title ^ICMJE

Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome

Official Title ^ICMJE

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

Study Type ^ICMJE

Observational

Study Design ^ICMJE

Natural History

Condition ^ICMJE

DiGeorge Syndrome
Shprintzen Syndrome
Chromosome Abnormalities
Abnormalities, Multiple
Conotruncal Cardiac Defects

Intervention ^ICMJE

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 ^ICMJE

Recruiting

Enrollment ^ICMJE

Completion Date

Primary Completion Date

Eligibility Criteria ^ICMJE

- Conotruncal cardiac lesion to be repaired by surgery AND Chromosome 22q11 deletion by FISH

Gender

Both

Ages

Accepts Healthy Volunteers

Contacts ^ICMJE

Location Countries ^ICMJE

United States

Administrative Information

NCT ID ^ICMJE

NCT00005102

Responsible Party

Study ID Numbers ^ICMJE

NCRR-M01RR00240-1571, CHP-IRB-95-903, CHP-GCRC-1571

Study Sponsor ^ICMJE

National Center for Research Resources (NCRR)

Collaborators ^ICMJE

Children's Hospital of Philadelphia

Investigators ^ICMJE

Study Chair:

Kathleen E. Sullivan

Children's Hospital of Philadelphia

Information Provided By

National Center for Research Resources (NCRR)

Verification Date

December 2003

^ICMJE Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP