RECRUITING

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

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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.

Official Title

Genetic Modifiers of 22q11.2 Deletion Syndrome

Quick Facts

Study Start:2016-07
Study Completion:2029-07
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT00556530

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.

Ages Eligible for Study:Not specified
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:No
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. * Has 22q11 deletion of 3 megabases (Mb)
  1. * Has 22q11 deletion smaller than 3 Mb or no deletion

Contacts and Locations

Study Contact

Bernice E. Morrow, PhD
CONTACT
914-329-4653
bernice.morrow@einsteinmed.edu

Principal Investigator

Bernice E. Morrow, PhD
PRINCIPAL_INVESTIGATOR
Albert Einstein College of Medicine

Study Locations (Sites)

Albert Einstein College of Medicine
New York, New York, 10461
United States
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 19139
United States

Collaborators and Investigators

Sponsor: Albert Einstein College of Medicine

  • Bernice E. Morrow, PhD, PRINCIPAL_INVESTIGATOR, Albert Einstein College of Medicine

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 Registration Dates

Study Start Date2016-07
Study Completion Date2029-07

Study Record Updates

Study Start Date2016-07
Study Completion Date2029-07

Terms related to this study

Keywords Provided by Researchers

  • Congenital Heart Defects
  • Single Nucleotide Polymorphisms
  • Copy Number Variations
  • Whole Genome Association Study

Additional Relevant MeSH Terms

  • DiGeorge Syndrome
  • 22q11.2 Deletion Syndrome