Examining Genetic Factors That Affect the Severity 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.

NCT Number	NCT00556530
Lead Sponsor	Albert Einstein College of Medicine Collaborators: National Heart, Lung, and Blood Institute (NHLBI), Children's Hospital of Philadelphia, University of Geneva, Switzerland, University of Toronto, Bambino Gesù Children's Hospital IRCCS, University of California, Los Angeles, Cardiff University, Universidad del Desarrollo, Tel Aviv University, KU Leuven, Maastricht University, The Coriell Institute, National Institute on Aging (NIA), Center for Inherited Disease Research (CIDR)
Conditions	DiGeorge Syndrome, 22q11.2 Deletion Syndrome
Enrollment	1,000 participants
Start Date	2016-07
Primary Completion	2029-06 (estimated)
Study Completion	2029-06 (estimated)
Updated on ClinicalTrials.gov	2026-07-29