Actively Recruiting

Age: 5Years +
All Genders
Healthy Volunteers
NCT01132885

Defining the Brain Phenotype of Children With Williams Syndrome

Led by National Institute of Mental Health (NIMH) · Updated on 2026-05-05

415

Participants Needed

1

Research Sites

N/A

Total Duration

On this page

AI-Summary

What this Trial Is About

Background: \- Little is known about how the brain changes during childhood and adolescence, how genes affect this process, or how the brains of people with 7q11.23 genetic variation change during this period. Researchers are interested in using magnetic resonance imaging to study how the brain changes in healthy children and children with 7q11.23 genetic variation, including Williams syndrome and 7q11.23 duplication syndrome. Objectives: \- To study developmental changes in the brains of healthy children and children who have been diagnosed with Williams syndrome,7q11.23 duplication syndrome, or other 7q11.23 genetic variation. Eligibility: * Healthy children and adolescents between 5 and 17 years of age. * Children and adolescents between 5 and 17 years of age who have been diagnosed with Williams syndrome, 7q11.23 duplication syndrome, or have other 7q11.23 genetic variation. Design: * Participants will have a brief physical examination and tests of memory, attention, concentration, and thinking. Parents will be asked about their child s personality, behavior characteristics, and social interaction and communication skills. * Both participants and their parents may be asked to complete additional questionnaires or take various tests as required for the study. * Participants will have approximately 10 hours of magnetic resonance imaging (MRI) scanning, usually over 4 to 5 days, within a one month period. Some of these tests will require the participants to do specific tasks while inside the MRI scanner. * Participants will be asked to return to the National Institutes of Health clinical center to repeat these procedures every 2 years thereafter until age 18.

CONDITIONS

Official Title

Defining the Brain Phenotype of Children With Williams Syndrome

Who Can Participate

Age: 5Years +
All Genders
Healthy Volunteers

Eligibility Criteria

Eligible

You may qualify if you...

  • Participants must be older than 5 years.
  • Participants under 18 years must provide assent; parents must provide consent.
  • Participants 18 years or older must provide consent.
  • Participants lacking capacity may have consent provided by a guardian or holder of the DPA.
  • Participants with 7q11.23 copy number variation must have typical 7q11.23 CNV or other genetic abnormality in the Williams syndrome critical region.
  • Control participants must have normal intelligence.
Not Eligible

You will not qualify if you...

  • Participants with any chronic or acute medical condition severe enough to interfere with task performance or MRI data interpretation.
  • Participants taking any medication that might interfere with task performance or MRI data interpretation.
  • Participants with medical conditions increasing MRI risk, such as pacemaker, metallic foreign body, or dental braces.
  • Pregnancy in females of child-bearing potential (pregnancy test required before MRI).
  • NIMH employees, staff, and their immediate family members are excluded.
  • Parents undergoing blood draws only cannot participate if they have conditions making blood collection unsafe.

AI-Screening

AI-Powered Screening

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Trial Site Locations

Total: 1 location

1

National Institutes of Health Clinical Center

Bethesda, Maryland, United States, 20892

Actively Recruiting

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Research Team

T

Tiffany A Nash

CONTACT

K

Karen F Berman, M.D.

CONTACT

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

5

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