Recruiting

Genetic Factors

Sponsor:

Albert Einstein College of Medicine

Code:

NCT00556530

Conditions

DiGeorge Syndrome

22q11.2 Deletion Syndrome

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Study Details

Brief summary:

22q11.2 deletion syndrome is a genetic disorder that can cause heart defects, facial abnormalities, and developmental and learning disabilities. The severity of the disorder can vary widely among people. This study will analyze DNA from people with 22q11.2 deletion syndrome to identify genetic variations that may affect the severity of the disorder.

Conditions

DiGeorge Syndrome

22q11.2 Deletion Syndrome

Study ID

NCT00556530

Start date

Jul, 2016

Status verified date

Jul, 2026

Completion date

Jun, 2029

Anticipated

Primary completion date

Jun, 2029

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Inclusion Criteria:

  • Has 22q11 deletion of 3 megabases (Mb)

Exclusion Criteria:

  • Has 22q11 deletion smaller than 3 Mb or no deletion

Study Design

Enrollment

1000 participants

Anticipated

Interventions and Outcome Measures

Central Contacts and Locations

Central contacts

Bernice E. Morrow, PhD

914-329-4653bernice.morrow@einsteinmed.edu

Locations

Albert Einstein College of Medicine

Recruiting

New York, New York, United States, 10461

Principal Investigator:

Bernice E. Morrow, PhD

More Information

Sponsor

Albert Einstein College of Medicine

Last update posted

Jul 29, 2026

Last verified

Jul, 2026

Keywords

  • Congenital Heart Defects
  • Single Nucleotide Polymorphisms
  • Copy Number Variations
  • Whole Genome Association Study

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Albert Einstein College of Medicine on 2026-07-29.