Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome

NCT ID: NCT00005102

Last Updated: 2005-06-24

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Total Enrollment

11 participants

Study Classification

OBSERVATIONAL

Study Start Date

1995-01-31

Brief Summary

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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.

Detailed Description

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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.

Conditions

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DiGeorge Syndrome Shprintzen Syndrome Chromosome Abnormalities Abnormalities, Multiple Conotruncal Cardiac Defects

Keywords

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DiGeorge syndrome Shprintzen syndrome cardiovascular and respiratory diseases conotruncal cardiac defects genetic diseases and dysmorphic syndromes rare disease

Study Design

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Observational Model Type

NATURAL_HISTORY

Eligibility Criteria

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Inclusion Criteria

* Conotruncal cardiac lesion to be repaired by surgery AND Chromosome 22q11 deletion by FISH
Minimum Eligible Age

0 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Children's Hospital of Philadelphia

OTHER

Sponsor Role collaborator

National Center for Research Resources (NCRR)

NIH

Sponsor Role lead

Principal Investigators

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Kathleen E. Sullivan

Role: STUDY_CHAIR

Children's Hospital of Philadelphia

Locations

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Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, United States

Site Status RECRUITING

Countries

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United States

Facility Contacts

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Kathleen E. Sullivan

Role: primary

Other Identifiers

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CHP-IRB-95-903

Identifier Type: -

Identifier Source: secondary_id

CHP-GCRC-1571

Identifier Type: -

Identifier Source: secondary_id

NCRR-M01RR00240-1571

Identifier Type: -

Identifier Source: org_study_id