Defining the Brain Phenotype of Children With Williams Syndrome (NCT01132885) | Clinical Trial Compass
RecruitingNot Applicable
Defining the Brain Phenotype of Children With Williams Syndrome
United States415 participantsStarted 2011-01-23
Plain-language 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.
Who can participate
Age range
5 Years
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Inclusion criteria
. 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.
Exclusion criteria
. 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).
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Since this study uses fMRI brain scans to look at how the brain works in children with Williams Syndrome, can you explain what the fMRI tasks involve and whether they would be manageable or stressful for my child given their specific symptoms and sensitivities?
2This trial is listed as 'Phase NA,' which means it's an observational or imaging study rather than a treatment trial — so what, if anything, would my child actually gain medically from participating, and how does that weigh against the time and effort involved?
3The study is also looking at children with a chromosomal duplication — can you help me understand whether my child's specific genetic diagnosis fits what the researchers are looking for, and whether it's worth pursuing?
4Since this is a brain imaging study measuring fMRI responses rather than testing a new treatment, would participating in this research have any impact on my child's current care plan or access to other therapies?
5Are there any risks or concerns I should know about with fMRI scans specifically for a child with Williams Syndrome, such as how they handle the noise, the confined space, or the need to stay still during the procedure?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.