Actively Recruiting

All Genders
NCT00556530

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

Led by Albert Einstein College of Medicine · Updated on 2025-07-22

1000

Participants Needed

1

Research Sites

674 weeks

Total Duration

On this page

Sponsors

A

Albert Einstein College of Medicine

Lead Sponsor

N

National Heart, Lung, and Blood Institute (NHLBI)

Collaborating Sponsor

AI-Summary

What this Trial Is About

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

Official Title

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

Who Can Participate

All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • Has 22q11 deletion of 3 megabases (Mb)
Not Eligible

You will not qualify if you...

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

AI-Screening

AI-Powered Screening

Complete this quick 3-step screening to check your eligibility

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Trial Site Locations

Total: 1 location

1

Albert Einstein College of Medicine

New York, New York, United States, 10461

Actively Recruiting

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Research Team

B

Bernice E. Morrow, PhD

CONTACT

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

0

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