Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome

This study is currently recruiting participants.

Verified by National Center for Research Resources (NCRR), December 2003

First Received: April 6, 2000 Last Updated: June 23, 2005 History of Changes

Sponsor:	National Center for Research Resources (NCRR)
Collaborator:	Children's Hospital of Philadelphia
Information provided by:	National Center for Research Resources (NCRR)
ClinicalTrials.gov Identifier:	NCT00005102

Purpose

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.

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

Study Type:	Observational
Study Design:	Natural History
Official Title:	Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome

Resource links provided by NLM:

Genetics Home Reference related topics: 22q11.2 deletion syndrome

U.S. FDA Resources

Further study details as provided by National Center for Research Resources (NCRR):

Estimated Enrollment:	11
Study Start Date:	January 1995

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.

Eligibility

Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	No

Criteria

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

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00005102

Locations

United States, Pennsylvania
Children's Hospital of Philadelphia	Recruiting
Philadelphia, Pennsylvania, United States, 19104
Contact: Kathleen E. Sullivan 215-590-1697

Sponsors and Collaborators

National Center for Research Resources (NCRR)

Children's Hospital of Philadelphia

Investigators

Study Chair:

Kathleen E. Sullivan

Children's Hospital of Philadelphia

More Information

No publications provided

Study ID Numbers:	NCRR-M01RR00240-1571, CHP-IRB-95-903, CHP-GCRC-1571
Study First Received:	April 6, 2000
Last Updated:	June 23, 2005
ClinicalTrials.gov Identifier:	NCT00005102 History of Changes
Health Authority:	United States: Federal Government

Keywords provided by National Center for Research Resources (NCRR):

DiGeorge syndrome
Shprintzen syndrome
cardiovascular and respiratory diseases

conotruncal cardiac defects
genetic diseases and dysmorphic syndromes
rare disease

Additional relevant MeSH terms:

Parathyroid Diseases
Disease
Immune System Diseases
Chromosome Disorders
Endocrine System Diseases
DiGeorge Syndrome
Immunologic Deficiency Syndromes

Pathologic Processes
Genetic Diseases, Inborn
Syndrome
Abnormalities, Multiple
Chromosome Aberrations
Hypoparathyroidism
Congenital Abnormalities

ClinicalTrials.gov processed this record on November 09, 2009