Examining genetic factors affecting 22q11.2 deletion syndrome severity

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study focuses on 22q11.2 deletion syndrome, a genetic disorder that can lead to various health issues, including heart defects and developmental delays. The research aims to analyze DNA from individuals diagnosed with this syndrome to identify specific genetic variations that may influence the severity of their symptoms. Participants will provide either blood or saliva samples during a single study visit, which will be used for whole genome association analysis. The findings could help in understanding the genetic underpinnings of the disorder and its variable presentation.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* Has 22q11 deletion of 3 megabases (Mb)

Exclusion Criteria:

* Has 22q11 deletion smaller than 3 Mb or no deletion

Where it's running

• Albert Einstein College of Medicine
  New York, New York, United States Recruiting

Study contacts

• Principal investigator: Bernice E. Morrow, PhD — Albert Einstein College of Medicine
• Study coordinator: Bernice E. Morrow, PhD
• Email: bernice.morrow@einsteinmed.edu
• Phone: 914-329-4653

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.