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

Recruiting

• Conditions: 22q11.2 Deletion Syndrome; DiGeorge Syndrome

• Registration Number: NCT00556530
• Lead Sponsor: Albert Einstein College of Medicine

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.

Detailed Description

22q11.2 deletion syndrome is a disorder caused by the deletion of a small piece of chromosome 22. Most people with this disorder are missing a sequence of about 3 million DNA building blocks on chromosome 22 within each cell. This disorder affects many areas of the body. People with 22q11.2 deletion syndrome may have heart defects, immune deficiency, kidney abnormalities, hearing loss, and cleft palate or other facial deformities. Many children experience developmental delays and learning disabilities, and they have an increased risk of developing mental illnesses, including schizophrenia, depression, anxiety, and bipolar disorder. All people with 22q11.2 deletion syndrome are missing the same sequence of DNA, but the severity of this disorder varies widely; some people are diagnosed with multiple health and developmental problems, while others experience very few symptoms. In some people, the symptoms may be so minimal that they are not even aware they have 22q11.2 deletion syndrome. This study will examine genetic material-either from blood or saliva-among people with 22q11.2 deletion syndrome. Participants will attend one study visit and undergo either blood or saliva collection. By analyzing the DNA sequences of participants, the study will aim to identify any genetic variations that may affect the severity of 22q11.2 deletion syndrome.

Study Timeline

• Study First Submitted: 2007-11-08
• Study First Submitted QC: 2007-11-08
• Study First Posted: 2007-11-12
• Study Start: 2016-07
• Status Verified: 2024-07
• Last Update Submitted: 2024-07-09
• Last Update Posted: 2024-07-10
• Primary Completion: 2029-06
• Study Completion: 2029-07

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 1000

Inclusion Criteria

• Has 22q11 deletion of 3 megabases (Mb)

Exclusion Criteria

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Trial Locations

Locations (2)

Albert Einstein College of Medicine; 🇺🇸 New York, New York, United States

Children's Hospital of Philadelphia; 🇺🇸 Philadelphia, Pennsylvania, United States