Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome - Full Text View

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

Sponsors and Collaborators:	National Center for Research Resources (NCRR) 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

Genetics Home Reference related topics:

22q11.2 deletion syndrome

U.S. FDA Resources

Study Type:	Observational
Study Design:	Natural History

Official Title:	Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome

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

Study ID Numbers:	NCRR-M01RR00240-1571, CHP-IRB-95-903, CHP-GCRC-1571
First Received:	April 6, 2000
Last Updated:	June 23, 2005
ClinicalTrials.gov Identifier:	NCT00005102
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

Study placed in the following topic categories:

Chromosomal abnormalities

Parathyroid Diseases

Respiration Disorders

Chromosome Disorders

Rare Diseases

Endocrine System Diseases

DiGeorge Syndrome

Immunologic Deficiency Syndromes

Genetic Diseases, Inborn

Abnormalities, Multiple

Chromosome Aberrations

DiGeorge syndrome

Endocrinopathy

Hypoparathyroidism

Velocardiofacial syndrome

Congenital Abnormalities

Conotruncal heart malformations

Additional relevant MeSH terms:

Disease

Pathologic Processes

Immune System Diseases

Syndrome

ClinicalTrials.gov processed this record on November 20, 2008