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Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome

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ClinicalTrials.gov Identifier: NCT00005102
Recruitment Status : Unknown
Verified December 2003 by National Center for Research Resources (NCRR).
Recruitment status was:  Recruiting
First Posted : April 7, 2000
Last Update Posted : June 24, 2005
Sponsor:
Collaborator:
Children's Hospital of Philadelphia
Information provided by:
National Center for Research Resources (NCRR)

Study Description
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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information
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.


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

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 Design
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Study Type : Observational
Enrollment : 11 participants
Observational Model: Natural History
Official Title: Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome
Study Start Date : January 1995

Resource links provided by the National Library of Medicine

U.S. FDA Resources

Groups and Cohorts
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Outcome Measures
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Eligibility Criteria
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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

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Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Criteria
  • Conotruncal cardiac lesion to be repaired by surgery AND Chromosome 22q11 deletion by FISH
Contacts and Locations
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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): 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
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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

ClinicalTrials.gov Identifier: NCT00005102     History of Changes
Other Study ID Numbers: NCRR-M01RR00240-1571
CHP-IRB-95-903
CHP-GCRC-1571
First Posted: April 7, 2000    Key Record Dates
Last Update Posted: June 24, 2005
Last Verified: December 2003

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