Hunting for hidden genes that shape a genetic Disorder's severity

NCT ID NCT00556530

Recruiting now Knowledge-focused Sponsor: Albert Einstein College of Medicine Source: ClinicalTrials.gov ↗

First seen Jul 29, 2026 · Last updated Jul 30, 2026 · Updated 1 time

Summary

22q11.2 deletion syndrome can cause heart defects, facial differences, and learning challenges, but its severity differs widely from person to person. This study analyzes DNA from 1,000 people with the deletion to identify genetic variations that might influence how the disorder affects each individual. The goal is to uncover clues that could one day help predict outcomes or guide care.

What this could mean

Our plain-language read of the trial. This is informational only — not medical advice or a prediction.

What this could lead to: If specific genetic modifiers are identified, this could help predict disease severity and guide personalized care for individuals with 22q11.2 deletion syndrome.
What could go wrong: This is an observational genetic study, not a treatment trial. Finding meaningful genetic modifiers is uncertain and may not lead to immediate clinical changes.

This is an AI summary of the original study and may miss details. Read our disclaimer.

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Conditions

The condition(s) this trial relates to.

22q11.2 deletion syndrome congenital heart disease DiGeorge syndrome

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

22Q11.2 DELETION SYNDROME DIGEORGE SYNDROME

Contacts and locations

Locations

Albert Einstein College of Medicine
RECRUITING

New York, New York, 10461, United States

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