Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome

The recruitment status of this study is unknown because the information has not been verified recently.

Verified December 2003 by National Center for Research Resources (NCRR).
Recruitment status was Recruiting

Sponsor:

Collaborator:

Children's Hospital of Philadelphia

Information provided by:

National Center for Research Resources (NCRR)

ClinicalTrials.gov Identifier:

NCT00005102

First received: April 6, 2000

Last updated: June 23, 2005

Last verified: December 2003

History of Changes

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:	Observational Model: 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 Crouzon syndrome branchio-oculo-facial syndrome

Genetic and Rare Diseases Information Center resources: 22q11.2 Deletion Syndrome Conotruncal Heart Malformations Lymphatic Malformations Hypoparathyroidism

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


Ages Eligible for Study:	Child, Adult, Senior
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

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

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


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


Syndrome Congenital Abnormalities Chromosome Aberrations Chromosome Disorders DiGeorge Syndrome Heart Defects, Congenital Abnormalities, Multiple Disease Pathologic Processes Genetic Diseases, Inborn 22q11 Deletion Syndrome	Craniofacial Abnormalities Musculoskeletal Abnormalities Musculoskeletal Diseases Cardiovascular Abnormalities Cardiovascular Diseases Heart Diseases Lymphatic Abnormalities Lymphatic Diseases Hypoparathyroidism Parathyroid Diseases Endocrine System Diseases

ClinicalTrials.gov processed this record on September 23, 2016

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