Plain-English translation of NCT00556530 on ClinicalTrials.gov ↗ · Source last updated · Translation generated · How we translate trials
Researchers want to understand why 22q11.2 deletion syndrome affects people so differently. Everyone with this condition is missing the same piece of DNA on chromosome 22, yet some people have serious health problems—like heart defects, immune issues, or learning disabilities—while others barely notice any symptoms. This study will collect blood or saliva samples from 1,000 people with this condition and analyze their DNA to find out what genetic differences might explain why the condition is mild in some people and severe in others.
Right now, doctors cannot predict how seriously 22q11.2 deletion syndrome will affect each person, even though everyone has the same genetic deletion. By identifying the genetic variations that influence symptom severity, researchers hope to eventually help doctors predict outcomes and tailor care for each patient.
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You will attend one study visit where you'll provide either a blood sample or a saliva sample. Researchers will analyze your DNA to look for genetic variations that may explain differences in how the condition affects people. The entire process is straightforward and non-invasive—no medications or procedures are involved.
AI-generated summary from trial data · Jun 13, 2026 · Not medical advice
United States
National Heart, Lung, and Blood Institute (NHLBI), Children's Hospital of Philadelphia
Enrollment target
~1,000 participants
Started
July 2016
Primary completion
June 2029
Last updated on clinicaltrials.gov in July 2026.
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Central contact
Bernice E. Morrow, PhD
Albert Einstein College of Medicine
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