- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT00556530
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
Conditions
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
- Name: Bernice E. Morrow, PhD
- Phone Number: 718-678-1121
- Email: morrow@aecom.yu.edu
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:
- Beverly S. Emanuel, PhD
- Phone Number: 215-590-3856
- Email: beverly@mail.med.upenn.edu
-
-
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.
Collaborators
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
Terms related to this study
Keywords
Additional Relevant MeSH Terms
- Pathologic Processes
- Heart Diseases
- Cardiovascular Diseases
- Lymphatic Diseases
- Endocrine System Diseases
- Disease
- Congenital Abnormalities
- Genetic Diseases, Inborn
- Musculoskeletal Diseases
- Parathyroid Diseases
- Heart Defects, Congenital
- Cardiovascular Abnormalities
- Craniofacial Abnormalities
- Musculoskeletal Abnormalities
- Abnormalities, Multiple
- Chromosome Disorders
- 22q11 Deletion Syndrome
- Lymphatic Abnormalities
- Hypoparathyroidism
- Syndrome
- DiGeorge Syndrome
Other Study ID Numbers
- 1999-201
- R01HL084410 (U.S. NIH Grant/Contract)
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.
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