Examining Genetic Factors in 22q11.2 Deletion Syndrome
This study aims to understand why the severity of 22q11.2 deletion syndrome (a genetic disorder causing various health issues like heart defects and learning disabilities) varies so much among people. Researchers will analyze DNA from individuals with the syndrome to find genetic differences that might explain these variations. There are no specific interventions or treatments being tested in this study. You can join if you have a 22q11 deletion of 3 megabases (Mb). The study's success will be measured by identifying genetic factors linked to the severity of the syndrome. The current recruitment status is unclear, with a goal of enrolling 1000 participants.
- Study design
- This is an observational study aiming to enroll 1000 participants. It is not testing a specific treatment.
- What's involved
- Participants will attend one study visit for either a blood or saliva collection.
- Compensation
- Not stated in the trial record.
- Follow-up
- Not specified.
AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.
Examining Genetic Factors That Affect the Severity of 22q11.2 Deletion Syndrome
At a glance
A primary outcome measure isn't published for this study.
Conditions
NCT00556530
Where you'd take part
This study runs at 1 site. They're the same protocol — you choose where, and that choice sets who your contact draft is addressed to.
Albert Einstein College of Medicine
New York, New Yorkno site contact published
Recruiting
Sites open and close at different times, so the status above is per site — it can differ from the study's overall status.
Study leadership
- Bernice E. Morrow, PhD · PRINCIPAL_INVESTIGATOR · Albert Einstein College of Medicine
Who to contact
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