Immunologic Evaluation in Patients With DiGeorge Syndrome... | NCT00005102

Studies
Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome

NCT00005102

Sponsor

National Center for Research Resources (NCRR)

Status

Unknown status

Last Update Posted

Jun 24, 2005Estimated

Enrollment

Phase

Not provided

Conditions

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

Interventions

Not provided

Countries

United States

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Dec 2003

Overall Recruitment Status or Expanded Access Status

Unknown status

Last Known Status

Recruiting

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Jan 1995

Primary Completion Date

Not provided

Completion Date

Not provided

First Submitted Date

Apr 6, 2000

First Submission Date that Met QC Criteria

Apr 6, 2000

First Posted Date

Apr 7, 2000Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Jun 23, 2005

Last Update Posted Date

Jun 24, 2005Estimated

Name	Class
Children's Hospital of Philadelphia	OTHER

Description Module

Brief 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.

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.

Conditions Module

Conditions

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

Keywords

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

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Not provided

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

No data available

No data is available for this block.

Enrollment

Eligibility Module

Eligibility Criteria

Conotruncal cardiac lesion to be repaired by surgery AND Chromosome 22q11 deletion by FISH

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

0 Years

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

Not provided

Sampling Method

Not provided

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Kathleen E. Sullivan	Children's Hospital of Philadelphia	Study Chair

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Children's Hospital of Philadelphia	Recruiting	Philadelphia	Pennsylvania	19104	United States

Condition Browse Module

MeSH Terms

ID	Term
D004062	DiGeorge Syndrome
D002869	Chromosome Aberrations
D000015	Abnormalities, Multiple
C535464	Conotruncal cardiac defects
D012140	Respiratory Tract Diseases
D030342	Genetic Diseases, Inborn
D035583	Rare Diseases

Ancestor Terms

ID	Term
D058165	22q11 Deletion Syndrome
D019465	Craniofacial Abnormalities
D009139	Musculoskeletal Abnormalities
D009140	Musculoskeletal Diseases

Browse Leaves

Not provided

Browse Branches

Not provided

ID	Type	Description	Link
CHP-IRB-95-903
CHP-GCRC-1571