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

This study is ongoing, but not recruiting participants.
Sponsor:
Collaborator:
National Heart, Lung, and Blood Institute (NHLBI)
Information provided by (Responsible Party):
Bernice Morrow, Albert Einstein College of Medicine of Yeshiva University
ClinicalTrials.gov Identifier:
NCT00556530
First received: November 8, 2007
Last updated: January 23, 2017
Last verified: January 2017
  Purpose
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
DiGeorge Syndrome 22q11.2 Deletion Syndrome

Study Type: Observational
Study Design: Observational Model: Family-Based
Time Perspective: Prospective
Official Title: Genetic Modifiers of 22q11.2 Deletion Syndrome

Resource links provided by NLM:


Further study details as provided by Bernice Morrow, Albert Einstein College of Medicine of Yeshiva University:

Biospecimen Retention:   Samples With DNA
Blood and saliva samples

Estimated Enrollment: 1000
Study Start Date: July 2016
Estimated Study Completion Date: July 2020
Estimated Primary Completion Date: July 2020 (Final data collection date for primary outcome measure)
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.
  Eligibility

Ages Eligible for Study:   Child, Adult, Senior
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
  Contacts and Locations
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, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: 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
  More Information

Responsible Party: Bernice Morrow, Professor of Genetics, Albert Einstein College of Medicine of Yeshiva University
ClinicalTrials.gov Identifier: NCT00556530     History of Changes
Other Study ID Numbers: 1390
R01HL084410 ( U.S. NIH Grant/Contract )
Study First Received: November 8, 2007
Last Updated: January 23, 2017

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

Additional relevant MeSH terms:
Syndrome
DiGeorge 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

ClinicalTrials.gov processed this record on July 19, 2017