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RECRUITING

NCT00556530

Examining Genetic Factors That Affect the Severity of 22q11.2 Deletion Syndrome

Sponsor: Albert Einstein College of Medicine

View on ClinicalTrials.gov

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.

Official title: Genetic Modifiers of 22q11.2 Deletion Syndrome

Key Details

Gender

All

Age Range

Any - Any

Study Type

OBSERVATIONAL

Enrollment

1000

Start Date

2016-07

Completion Date

2029-06

Last Updated

2025-07-22

Healthy Volunteers

Conditions

DiGeorge Syndrome 22q11.2 Deletion Syndrome

Locations (1)

Albert Einstein College of Medicine

New York, New York, United States