Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome
Recruitment status was: Recruiting
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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 |
| Estimated Enrollment: | 11 |
| Study Start Date: | January 1995 |
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
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| Ages Eligible for Study: | Child, Adult, Senior |
| Sexes Eligible for Study: | All |
| Accepts Healthy Volunteers: | No |
- Conotruncal cardiac lesion to be repaired by surgery AND Chromosome 22q11 deletion by FISH
Contacts and Locations
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
| United States, Pennsylvania | |
| Children's Hospital of Philadelphia | Recruiting |
| Philadelphia, Pennsylvania, United States, 19104 | |
| Contact: Kathleen E. Sullivan 215-590-1697 | |
| 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 |
| First Submitted: | April 6, 2000 |
| First Posted: | April 7, 2000 |
| Last Update Posted: | December 9, 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 |