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

June 14, 2023 updated by: Bernice Morrow, Albert Einstein College of Medicine

Genetic Modifiers of 22q11.2 Deletion Syndrome

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.

Study Overview

Status

Recruiting

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 Type

Observational

Enrollment (Estimated)

1000

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

    • New York
      • New York, New York, United States, 10461
        • Recruiting
        • Albert Einstein College of Medicine
        • Principal Investigator:
          • Bernice E. Morrow, PhD
    • Pennsylvania
      • Philadelphia, Pennsylvania, United States, 19139
        • Recruiting
        • Children's Hospital of Philadelphia
        • Contact:

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

People with 22q11.2 deletion syndrome

Description

Inclusion Criteria:

  • Has 22q11 deletion of 3 megabases (Mb)

Exclusion Criteria:

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Family-Based
  • Time Perspectives: Prospective

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Investigators

  • Principal Investigator: Bernice E. Morrow, PhD, Albert Einstein College of Medicine, New York

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

July 1, 2016

Primary Completion (Estimated)

June 1, 2029

Study Completion (Estimated)

July 1, 2029

Study Registration Dates

First Submitted

November 8, 2007

First Submitted That Met QC Criteria

November 8, 2007

First Posted (Estimated)

November 12, 2007

Study Record Updates

Last Update Posted (Estimated)

June 16, 2023

Last Update Submitted That Met QC Criteria

June 14, 2023

Last Verified

June 1, 2023

More Information

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

Clinical Trials on DiGeorge Syndrome

3
Subscribe