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| Sponsor: | National Center for Research Resources (NCRR) |
|---|---|
| Collaborator: |
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 |
| 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| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | No |
Contacts and Locations| 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 |
| Study First Received: | April 6, 2000 |
| Last Updated: | June 23, 2005 |
| Health Authority: | United States: Federal Government |
|
DiGeorge syndrome Shprintzen syndrome cardiovascular and respiratory diseases |
conotruncal cardiac defects genetic diseases and dysmorphic syndromes rare disease |
|
Congenital Abnormalities Abnormalities, Multiple Chromosome Aberrations Chromosome Disorders DiGeorge Syndrome Heart Defects, Congenital 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 |
