Examining Genetic Factors That Affect the Severity of 22q11.2 Deletion Syndrome
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorAlbert Einstein College of Medicine
About this trial
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.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
Has 22q11 deletion of 3 megabases (Mb)
Disqualifiers
Has 22q11 deletion smaller than 3 Mb or no deletion
Trial population
People with 22q11.2 deletion syndrome
Trial design
Design model
Family-based
Time perspective
Prospective
Treatments tested in this trial
Not listed
Trial groups
No trial groups listed
Trial outcomes
This trial has no outcomes listed.Sponsors and contacts
Click on the lead sponsor to view all of their trials.
Albert Einstein College of Medicine
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
Collaborator
Children's Hospital of Philadelphia
Collaborator
University of Geneva, Switzerland
Collaborator
University of Toronto
Collaborator
Bambino Gesù Children's Hospital IRCCS
Collaborator
University of California, Los Angeles
Collaborator
Cardiff University
Collaborator
Universidad del Desarrollo
Collaborator
Tel Aviv University
Collaborator
KU Leuven
Collaborator
Maastricht University
Collaborator
The Coriell Institute
Collaborator
National Institute on Aging (NIA)
Collaborator
Center for Inherited Disease Research (CIDR)
Collaborator
Source ClinicalTrials.gov