Examining brain changes in children with Williams syndrome

Defining the Brain Phenotype of Children With 7q11.23 Copy Number Variation, Including Williams Syndrome and 7q11.23 Duplication Syndrome

This study looks at how the brains of children with Williams syndrome and similar genetic conditions develop compared to healthy kids, using MRI scans to see the differences.

Quick facts

• Study type: Observational
• Enrollment: 415 (estimated)
• Ages: 5 Years and up
• Sex: All
• Sponsor: National Institutes of Health Clinical Center (CC) (nih)
• Locations: 1 site (Bethesda, Maryland)
• Trial ID: NCT01132885 on ClinicalTrials.gov

What this trial studies

This observational study aims to investigate how the brains of children with Williams syndrome and other genetic variations on chromosome 7q11.23 develop compared to healthy children. Researchers will utilize magnetic resonance imaging (MRI) to assess brain structure and function in participants aged 5 to 17 years. The study will include both healthy children and those diagnosed with Williams syndrome or related conditions, focusing on understanding the neurodevelopmental changes associated with these genetic variations. Participants will undergo physical examinations and cognitive tests to gather comprehensive data on their brain development.

Who should consider this trial

Good fit: Ideal candidates include children and adolescents aged 5 to 17 with a diagnosis of Williams syndrome, 7q11.23 duplication syndrome, or other related genetic variations, as well as healthy children in the same age range.

Not a fit: Patients with chronic or acute medical conditions that could interfere with MRI data interpretation or task performance may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could enhance our understanding of the neurodevelopmental impacts of Williams syndrome, potentially leading to better-targeted interventions and support for affected individuals.

How similar studies have performed: Previous neuroimaging studies in adults with Williams syndrome have successfully identified specific brain phenotypes, suggesting that this approach may yield valuable insights in children as well.

Eligibility criteria

* 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.

Where this trial is running

Bethesda, Maryland

• National Institutes of Health Clinical Center — Bethesda, Maryland, United States (RECRUITING)

Study contacts

• Principal investigator: Karen F Berman, M.D. — National Institute of Mental Health (NIMH)
• Study coordinator: Tiffany A Nash

Conditions: Williams Syndrome, Duplication, MRI, Developmental, Genetic abnormalities in chromosome 7q11.23., Brain, Natural History, Children