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NCT00005102 Clinical Trial

Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome

DiGeorge Syndrome Clinical Trial

Official title:
Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome

Clinical Trial Details — Status: Recruiting

Administrative data
NCT number NCT00005102
Other study ID # NCRR-M01RR00240-1571
Secondary ID CHP-IRB-95-903CH
Status Recruiting
Phase N/A
First received April 6, 2000
Last updated June 23, 2005
Start date January 1995

Study information
Verified date December 2003
Source National Center for Research Resources (NCRR)
Contact n/a
Is FDA regulated No
Health authority United States: Federal Government
Study type Observational

Clinical Trial 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.

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.

Recruitment information / eligibility
Status Recruiting
Enrollment 11
Est. completion date
Est. primary completion date
Accepts healthy volunteers No
Gender Both
Age group N/A and older
Eligibility - Conotruncal cardiac lesion to be repaired by surgery AND Chromosome 22q11 deletion by FISH

Study Design

Observational Model: Natural History

Related Conditions & MeSH terms

Locations
Country Name City State
United States Children's Hospital of Philadelphia Philadelphia Pennsylvania

Sponsors (2)
Lead Sponsor Collaborator
National Center for Research Resources (NCRR) Children's Hospital of Philadelphia

Country where clinical trial is conducted

United States, 

See also
  Status Clinical Trial Phase
Completed NCT00576836 - Thymus Transplantation Dose in DiGeorge #932 Phase 2
Completed NCT00004351 - Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes N/A
Terminated NCT00395538 - Effects of PTH Replacement on Bone in Hypoparathyroidism Phase 3
Completed NCT02787486 - Expanded Noninvasive Genomic Medical Assessment: The Enigma Study
Completed NCT00576407 - Thymus Transplantation in DiGeorge Syndrome #668 Phase 2
Completed NCT00105274 - Velocardiofacial (VCFS; 22q11.2; DiGeorge) Syndrome Study N/A
Active, not recruiting NCT02430584 - Whole Blood Specimen Collection From Pregnant Subjects
Recruiting NCT01821781 - Immune Disorder HSCT Protocol Phase 2
Recruiting NCT00556530 - Examining Genetic Factors That Affect the Severity of 22q11.2 Deletion Syndrome
Completed NCT00579709 - Thymus Transplantation With Immunosuppression Phase 1
Completed NCT00566488 - Parathyroid and Thymus Transplantation in DiGeorge #931 Phase 1
Terminated NCT00278005 - Infection in DiGeorge Following CHD Surgery N/A
Completed NCT02381457 - SNP-based Microdeletion and Aneuploidy RegisTry (SMART)
Approved for marketing NCT01220531 - Thymus Transplantation Safety-Efficacy