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

NCT ID NCT00556530

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

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

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.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 1,000 people

The number the study aims to enrol. It can still change while the study runs.

Start date

Jul 2016

Expected to finish

Jun 2029

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

People with 22q11.2 deletion syndrome

Ages

Children (under 18), adults (18 to 64) and older adults (65 and over)

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Inclusion Criteria: * Has 22q11 deletion of 3 megabases (Mb) Exclusion Criteria: * Has 22q11 deletion smaller than 3 Mb or no deletion

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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

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    1 site. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

  • Albert Einstein College of Medicine

    RECRUITING

    New York, New York, 10461, United States

More trials for these conditions

Other studies related to the condition(s) this trial covers.