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NIH launches study to map brain changes in kids with rare genetic disorders

NCT ID NCT01132885

Knowledge-focused Sponsor: National Institute of Mental Health (NIMH) 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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 Jun 27, 2026 · Last updated Sep 17, 2026 · Updated 9 times

Summary

This study aims to understand how the brain develops in children with Williams syndrome or 7q11.23 duplication syndrome, compared to healthy children. Researchers will use MRI scans and cognitive tests to track changes over time. The goal is to learn how these genetic variations affect brain structure and function during childhood and adolescence.

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 successful, this study could reveal how specific genetic changes affect brain development, pointing toward future therapies for related conditions.
What could go wrong
This is an observational study, not a treatment trial. It may not lead directly to any new therapies, and results may take years to translate into clinical practice.

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 415 people

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

Started

Jan 2011

Lead sponsor

A government research agency

The lead sponsor is the US National Institutes of Health.

Who can take part

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

Who is studied

Children with classic WS deletions, those with smaller deletions, and those with duplications of the WS region on chromosome band 7q11.23.

Ages

5 years and older

Sex

Anyone

Healthy volunteers

Accepted

You do not need to have the condition being studied to take part.

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: For all participants, the following inclusion criteria will apply: 1. Greater than 5 years old. 2. Able to provide assent if below the age of 18, or consent if 18 years of age or older. Parents will provide consent for participants below the age of 18. For patients who do not have the capacity to provide informed consent, consent may be obtained from a guardian or the holder of the DPA. Additionally, 7q11.23 CNV participants must have a typical, 7q11.23 CNV or other genetic abnormality in the Williams syndrome critical region of chromosome 7q11.23, and control participants must have normal intelligence. EXCLUSION CRITERIA: For all participants who will participate in MRI scanning, the following exclusion criteria will apply: 1. Any chronic or acute medical condition severe enough to interfere with task performance or interpretation of MRI data. 2. Any medication that might interfere with task performance or interpretation of MRI data. 3. Any medical condition that increases risk for MRI (e.g. pacemaker, metallic foreign body in eye or other body part, dental braces). 4. Pregnancy (a urine pregnancy test will be performed prior to all MRI procedures for all females of child-bearing potential. 5. NIMH employees and staff and their immediate family members will be excluded from the study per NIMH policy. For parents who will undergo blood draws only, they will not be able to participate if they have a condition that would make collecting blood unsafe.

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Conditions

The condition(s) this trial relates to.

7q11.23 microduplication syndrome Williams syndrome

As listed by the trial registrant

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

Duplication Williams 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

  • National Institutes of Health Clinical Center

    RECRUITING

    Bethesda, Maryland, 20892, United States

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