ClinicalTrials.gov
ClinicalTrials.gov Menu

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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT00556530
Recruitment Status : Active, not recruiting
First Posted : November 12, 2007
Last Update Posted : January 24, 2017
Sponsor:
Collaborator:
National Heart, Lung, and Blood Institute (NHLBI)
Information provided by (Responsible Party):
Bernice Morrow, Albert Einstein College of Medicine, Inc.

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.

Condition or disease
DiGeorge Syndrome 22q11.2 Deletion Syndrome

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
Estimated Enrollment : 1000 participants
Observational Model: Family-Based
Time Perspective: Prospective
Official Title: Genetic Modifiers of 22q11.2 Deletion Syndrome
Study Start Date : July 2016
Estimated Primary Completion Date : July 2020
Estimated Study Completion Date : July 2020





Biospecimen Retention:   Samples With DNA
Blood and saliva samples


Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
People with 22q11.2 deletion syndrome
Criteria

Inclusion Criteria:

  • Has 22q11 deletion of 3 megabases (Mb)

Exclusion Criteria:

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00556530


Locations
United States, New York
Albert Einstein College of Medicine
New York, New York, United States, 10461
United States, Pennsylvania
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States, 19139
Sponsors and Collaborators
Albert Einstein College of Medicine, Inc.
National Heart, Lung, and Blood Institute (NHLBI)
Investigators
Principal Investigator: Bernice E. Morrow, PhD Albert Einstein College of Medicine, New York

Responsible Party: Bernice Morrow, Professor of Genetics, Albert Einstein College of Medicine, Inc.
ClinicalTrials.gov Identifier: NCT00556530     History of Changes
Other Study ID Numbers: 1390
R01HL084410 ( U.S. NIH Grant/Contract )
First Posted: November 12, 2007    Key Record Dates
Last Update Posted: January 24, 2017
Last Verified: January 2017

Keywords provided by Bernice Morrow, Albert Einstein College of Medicine, Inc.:
Congenital Heart Defects
Single Nucleotide Polymorphisms
Copy Number Variations
Whole Genome Association Study

Additional relevant MeSH terms:
DiGeorge Syndrome
Syndrome
Disease
Pathologic Processes
22q11 Deletion Syndrome
Craniofacial Abnormalities
Musculoskeletal Abnormalities
Musculoskeletal Diseases
Heart Defects, Congenital
Cardiovascular Abnormalities
Cardiovascular Diseases
Heart Diseases
Lymphatic Abnormalities
Lymphatic Diseases
Abnormalities, Multiple
Congenital Abnormalities
Chromosome Disorders
Genetic Diseases, Inborn
Hypoparathyroidism
Parathyroid Diseases
Endocrine System Diseases