Recruiting

Observational Study

Sponsor:

National Institute of Mental Health (NIMH)

Code:

NCT01132885

Conditions

Williams Syndrome

Duplication

Eligibility Criteria

Sex: All

Age: 5 - 70+

Healthy Volunteers: Accepted

Study Details

Brief summary:

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

Study ID

NCT01132885

Start date

Jan 23, 2011

Status verified date

Oct 1, 2026

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 5 - 70+

Healthy Volunteers: Accepted

  • 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.

Study Design

Enrollment

415 participants

Anticipated

Interventions and Outcome Measures

Arms

Adults with WS or genetic abnormalities

Adults with Williams syndrome or genetic abnormalities in chromosome 7q11.23

Children with WS or genetic abnormalities

children ages 5-17 with Williams Syndrome or genetic abnormalities in chromosome 7q11.23

Parents

Parents of children with 7q11.23 CNV will undergo blood draws

Unaffected Siblings

Siblings of children with 7q11.23 CNV

Unrelated children

Typically developing children ages ages 5-17

Primary outcome measure

  • fMRI Task Procedures [ Time Frame: Ongoing ]

Central Contacts and Locations

Central contacts

Tiffany A Nash

(240) 205-0333tiffany.nash@nih.gov

Karen F Berman, M.D.

(301) 496-7603bermank@mail.nih.gov

Locations

National Institutes of Health Clinical Center

Recruiting

Bethesda, Maryland, United States, 20892

Contacts

For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)

800-411-1222ccopr@nih.gov

More Information

Sponsor

National Institute of Mental Health (NIMH)

Last update posted

Oct 16, 2026

Last verified

Oct 1, 2026

Keywords

  • MRI
  • Developmental
  • Genetic abnormalities in chromosome 7q11.23.
  • Duplication
  • Brain
  • Natural History
  • Williams Syndrome
  • Children
  • Healthy Volunteer
  • HV

Trial information was received from ClinicalTrials.gov and was last updated on 2026-10-24. This information was provided to ClinicalTrials.gov by National Institute of Mental Health (NIMH) on 2026-10-16. Recruitment status is synced daily from ClinicalTrials.gov and may not reflect the sponsor's current status. Confirm during your call.