- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT00005102
Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome
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.
Study Overview
Status
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 Type
Enrollment
Contacts and Locations
Study Locations
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Pennsylvania
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Philadelphia, Pennsylvania, United States, 19104
- Recruiting
- Children's Hospital of Philadelphia
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Contact:
- Kathleen E. Sullivan
- Phone Number: 215-590-1697
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Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Genders Eligible for Study
Description
- Conotruncal cardiac lesion to be repaired by surgery AND Chromosome 22q11 deletion by FISH
Study Plan
How is the study designed?
Design Details
Collaborators and Investigators
Collaborators
Investigators
- Study Chair: Kathleen E. Sullivan, Children's Hospital of Philadelphia
Study record dates
Study Major Dates
Study Start
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (ESTIMATE)
Study Record Updates
Last Update Posted (ESTIMATE)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
- Pathologic Processes
- Heart Diseases
- Cardiovascular Diseases
- Lymphatic Diseases
- Endocrine System Diseases
- Disease
- Genetic Diseases, Inborn
- Musculoskeletal Diseases
- Parathyroid Diseases
- Heart Defects, Congenital
- Cardiovascular Abnormalities
- Craniofacial Abnormalities
- Musculoskeletal Abnormalities
- 22q11 Deletion Syndrome
- Lymphatic Abnormalities
- Hypoparathyroidism
- Syndrome
- Congenital Abnormalities
- Chromosome Disorders
- Chromosome Aberrations
- Abnormalities, Multiple
- DiGeorge Syndrome
Other Study ID Numbers
- NCRR-M01RR00240-1571
- CHP-IRB-95-903
- CHP-GCRC-1571
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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