Examining brain changes in children with Williams syndrome

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

* 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 it's running

• 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
• Email: tiffany.nash@nih.gov
• Phone: (240) 205-0333

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.