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

NCT ID: NCT00556530

Last Updated: 2025-07-22

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

1000 participants

Study Classification

OBSERVATIONAL

Study Start Date

2016-07-31

Study Completion Date

2029-06-30

Brief Summary

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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

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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.

NOTE: Each clinical site is under the governance of its own Institutional Review Board and discretionary clinicaltrials.gov registration.

Conditions

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DiGeorge Syndrome 22q11.2 Deletion Syndrome

Study Design

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Observational Model Type

FAMILY_BASED

Study Time Perspective

PROSPECTIVE

Eligibility Criteria

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Inclusion Criteria

* Has 22q11 deletion of 3 megabases (Mb)

Exclusion Criteria

* Has 22q11 deletion smaller than 3 Mb or no deletion
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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National Heart, Lung, and Blood Institute (NHLBI)

NIH

Sponsor Role collaborator

Children's Hospital of Philadelphia

OTHER

Sponsor Role collaborator

University of Geneva, Switzerland

OTHER

Sponsor Role collaborator

University of Toronto, Centre for Addiction and Mental Health (CAMH)

UNKNOWN

Sponsor Role collaborator

Bambino Gesù Children's Hospital IRCCS

OTHER

Sponsor Role collaborator

University of California, Los Angeles

OTHER

Sponsor Role collaborator

Cardiff University

OTHER

Sponsor Role collaborator

Universidad del Desarrollo

OTHER

Sponsor Role collaborator

Tel Aviv University

OTHER

Sponsor Role collaborator

KU Leuven

OTHER

Sponsor Role collaborator

Maastricht University

OTHER

Sponsor Role collaborator

The Coriell Institute

UNKNOWN

Sponsor Role collaborator

National Institute on Aging (NIA)

NIH

Sponsor Role collaborator

Albert Einstein College of Medicine

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Bernice E. Morrow, PhD

Role: PRINCIPAL_INVESTIGATOR

Albert Einstein College of Medicine

Locations

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Albert Einstein College of Medicine

New York, New York, United States

Site Status RECRUITING

Countries

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United States

Central Contacts

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Bernice E. Morrow, PhD

Role: CONTACT

914-329-4653

Other Identifiers

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R01HL084410

Identifier Type: NIH

Identifier Source: secondary_id

View Link

R01HL157157

Identifier Type: NIH

Identifier Source: secondary_id

View Link

1999-201

Identifier Type: -

Identifier Source: org_study_id

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