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Defining the Brain Phenotype of Children With Williams Syndrome

National Institute of Mental Health (NIMH) · NCT01132885

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Opens the official ClinicalTrials.gov record, with the study team’s contacts. Bored Studies doesn’t enroll anyone.

Key facts

Compensation
Not posted. Ask the study team before screening.
Who can join
Ages 5–99 · All sexes
Healthy volunteers
Accepted
Study type
Observational
Target enrollment
415
US sites recruiting
1
Study start
January 23, 2011
Record last updated
October 16, 2026

Status re-checked against ClinicalTrials.gov within the last 12 hours.

What the study 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: Williams Syndrome; Duplication

Eligibility criteria

Copied from the official record. The study team makes the final decision at screening.

Show full criteria
  • INCLUSION CRITERIA:

For all participants, the following inclusion criteria will apply:

  • Greater than 5 years old.
  • 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:

  • Any chronic or acute medical condition severe enough to interfere with task performance or interpretation of MRI data.
  • Any medication that might interfere with task performance or interpretation of MRI data.
  • Any medical condition that increases risk for MRI (e.g. pacemaker, metallic foreign body in eye or other body part, dental braces).
  • Pregnancy (a urine pregnancy test will be performed prior to all MRI procedures for all females of child-bearing potential.
  • 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.

Recruiting US locations

  • National Institutes of Health Clinical Center

    Bethesda, MD 20892

    Site contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR) · 800-411-1222 · ccopr@nih.gov

Study contacts (from the official record)

  • Tiffany A Nash · (240) 205-0333 · tiffany.nash@nih.gov
  • Karen F Berman, M.D. · (301) 496-7603 · bermank@mail.nih.gov
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Defining the Brain Phenotype of Children With Williams Syndrome (NCT01132885) | Bored Studies