NCT00005102

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.

Trial Health

55
Monitor

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
11

participants targeted

Target at below P25 for all trials

Geographic Reach
1 country

1 active site

Status
unknown

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

Study Start

First participant enrolled

January 1, 1995

Completed
5.3 years until next milestone

First Submitted

Initial submission to the registry

April 6, 2000

Completed
1 day until next milestone

First Posted

Study publicly available on registry

April 7, 2000

Completed
Last Updated

June 24, 2005

Status Verified

December 1, 2003

First QC Date

April 6, 2000

Last Update Submit

June 23, 2005

Conditions

DiGeorge SyndromeShprintzen SyndromeChromosome AbnormalitiesAbnormalities, MultipleConotruncal Cardiac Defects

Keywords

DiGeorge syndromeShprintzen syndromecardiovascular and respiratory diseasesconotruncal cardiac defectsgenetic diseases and dysmorphic syndromesrare disease

Eligibility Criteria

Age0 Years+
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
* Conotruncal cardiac lesion to be repaired by surgery AND Chromosome 22q11 deletion by FISH

Contact the study team to discuss eligibility requirements. They can help determine if this study is right for you.

Sponsors & Collaborators

Study Sites (1)

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, 19104, United States

RECRUITING

MeSH Terms

Conditions

DiGeorge SyndromeChromosome AberrationsAbnormalities, MultipleConotruncal cardiac defectsRespiratory Tract DiseasesGenetic Diseases, InbornRare Diseases

Condition Hierarchy (Ancestors)

22q11 Deletion SyndromeCraniofacial AbnormalitiesMusculoskeletal AbnormalitiesMusculoskeletal DiseasesHeart Defects, CongenitalCardiovascular AbnormalitiesCardiovascular DiseasesHeart DiseasesLymphatic AbnormalitiesLymphatic DiseasesHemic and Lymphatic DiseasesCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesChromosome DisordersHypoparathyroidismParathyroid DiseasesEndocrine System DiseasesPathologic ProcessesPathological Conditions, Signs and SymptomsDisease Attributes

Study Officials

  • Kathleen E. Sullivan

    Children's Hospital of Philadelphia

    STUDY CHAIR

Study Design

Study Type
observational
Observational Model
NATURAL HISTORY
Sponsor Type
NIH

Study Record Dates

First Submitted

April 6, 2000

First Posted

April 7, 2000

Study Start

January 1, 1995

Last Updated

June 24, 2005

Record last verified: 2003-12

Locations

US(1)