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Defining the Brain Phenotype of Children With Williams Syndrome

This study is currently recruiting participants.
Verified August 9, 2017 by National Institutes of Health Clinical Center (CC) ( National Institute of Mental Health (NIMH) )
Sponsor:
ClinicalTrials.gov Identifier:
NCT01132885
First Posted: May 28, 2010
Last Update Posted: October 6, 2017
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Institute of Mental Health (NIMH) )
  Purpose

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 Williams syndrome change during this period. Genetic features of Williams syndrome affect the brain s development, but the details of this process have not been studied over time. Researchers are interested in using magnetic resonance imaging to study how the brain changes in healthy children and children with Williams syndrome and related genetic disorders.

Objectives:

- To study developmental changes in the brains of healthy children and children who have been diagnosed with Williams syndrome or a related genetic disorder.

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 or genetic characteristics that overlap with Williams syndrome.

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.

Condition
Williams Syndrome

Study Type: Observational
Study Design: Time Perspective: Prospective
Official Title: Defining the Brain Phenotype of Children With Williams Syndrome

Resource links provided by NLM:


Further study details as provided by National Institutes of Health Clinical Center (CC) ( National Institute of Mental Health (NIMH) ):

Estimated Enrollment: 315
Study Start Date: April 30, 2010
  Show Detailed Description

  Eligibility

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Ages Eligible for Study:   5 Years to 70 Years   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
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.

Additionally, 7q11.23 CNV participants must have a typical 7q11.23 CNV or other genetic abnormality in the WS 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.

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.

  Contacts and Locations
Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01132885


Contacts
Contact: Tiffany A Nash (301) 443-8490 tiffany.nash@nih.gov
Contact: Karen F Berman, M.D. (301) 496-7603 bermank@mail.nih.gov

Locations
United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL)    800-411-1222 ext TTY8664111010    prpl@mail.cc.nih.gov   
Sponsors and Collaborators
National Institute of Mental Health (NIMH)
Investigators
Principal Investigator: Karen F Berman, M.D. National Institute of Mental Health (NIMH)
  More Information

Additional Information:
Publications:
Responsible Party: National Institute of Mental Health (NIMH)
ClinicalTrials.gov Identifier: NCT01132885     History of Changes
Other Study ID Numbers: 100112
10-M-0112
First Submitted: May 27, 2010
First Posted: May 28, 2010
Last Update Posted: October 6, 2017
Last Verified: August 9, 2017

Keywords provided by National Institutes of Health Clinical Center (CC) ( National Institute of Mental Health (NIMH) ):
MRI
Children
Williams Syndrome
Phenotype
Brain
Healthy Volunteer
HV

Additional relevant MeSH terms:
Disease
Nervous System Diseases
Aortic Stenosis, Supravalvular
Aortic Valve Stenosis
Heart Valve Diseases
Heart Diseases
Cardiovascular Diseases
Chromosome Disorders
Genetic Diseases, Inborn
Syndrome
Williams Syndrome
Pathologic Processes
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Congenital Abnormalities