NCT01132885

Defining the Brain Phenotype of Children With Williams Syndrome

Recruiting now Last updated 8 April 2026

What this trial tests

trial in Williams Syndrome in 415 participants. Currently enrolling.

Timeline

23 January 2011

Quick facts

Lead sponsor	National Institute of Mental Health (NIMH)
Status	Recruiting now
Study type	OBSERVATIONAL
Enrollment	415
Start date	23 January 2011
Sites	1 location across United States

Conditions studied

• Williams Syndrome — all drugs for Williams Syndrome →
• Duplication — all drugs for Duplication →

Sponsor

National Institute of Mental Health (NIMH)

Who can join

5 and older, any sex, with Williams Syndrome or Duplication. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

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.

Publications & conference data

7 peer-reviewed publications reference this trial (live from Europe PMC):

1. Williams syndrome hemideletion and LIMK1 variation both affect dorsal stream functional connectivity.
   Gregory MD, Mervis CB, Elliott ML, Kippenhan JS, et al · · 2019 · cited 17× · PMID 31687737 · DOI 10.1093/brain/awz323
2. Beyond linearity in neuroimaging: Capturing nonlinear relationships with application to longitudinal studies.
   Chen G, Nash TA, Cole KM, Kohn PD, et al · · 2021 · cited 9× · PMID 33667672 · DOI 10.1016/j.neuroimage.2021.117891
3. A method for determining haploid and triploid genotypes and their association with vascular phenotypes in Williams syndrome and 7q11.23 duplication syndrome.
   Gregory MD, Kolachana B, Yao Y, Nash T, et al · · 2018 · cited 4× · PMID 29614955 · DOI 10.1186/s12881-018-0563-3
4. Contrasting neurofunctional correlates of face- and visuospatial-processing in children and adolescents with Williams syndrome: convergent results from four fMRI paradigms.
   Garvey MH, Nash T, Kippenhan JS, Kohn P, et al · · 2024 · cited 3× · PMID 38705917 · DOI 10.1038/s41598-024-60460-5
5. Dorsal visual stream and LIMK1: hemideletion, haplotype, and enduring effects in children with Williams syndrome.
   Kippenhan JS, Gregory MD, Nash T, Kohn P, et al · · 2023 · cited 3× · PMID 37633900 · DOI 10.1186/s11689-023-09493-x
6. Altered pubertal timing in 7q11.23 copy number variations and associated genetic mechanisms.
   Wei SM, Gregory MD, Nash T, de Abreu E Gouvêa A, et al · · 2024 · PMID 38375233 · DOI 10.1016/j.isci.2024.109113
7. Syntaxin1A overexpression and pain insensitivity in individuals with 7q11.23 duplication syndrome.
   Iadarola MJ, Sapio MR, Loydpierson AJ, Mervis CB, et al · · 2024 · PMID 38261410 · DOI 10.1172/jci.insight.176147