Clinical Study of Individuals With 16p11.2 Deletions or Duplications
Recruitment status was Recruiting
The Simons Variation in Individuals Project (VIP) is characterizing the medical, behavioral, and learning features of individuals with documented 16p11.2 deletions and duplications. The study requires that both biological parents participate and the participation of siblings is encouraged. The family must be willing to travel for a minimum of two days to one of three study sites: Baylor College of Medicine(Houston, TX), Children's Hospital of Boston, or University of Washington (Seattle, WA). The patient will receive medical, neurological, and psychometric assessments as well as an MRI. The patient's parents will receive the results of all evaluations. All travel expenses and accommodations will be paid.
The project has assembled a team of experts at three university medical centers to collect detailed clinical information and blood samples from over 200 families. This information will help clinicians and families understand the relationship between specific genetic changes and the brain's development. Information from the project will be stripped of any personal identifying information and made available to other qualified scientists around the world. The goal is to improve clinical care and treatment for individuals with 16p11.2 deletions and duplications as well as those with autism and other developmental disorders.
The Simons Foundation, a New York-based private foundation, is committed to finding science-based solutions and working towards the development of targeted treatments to improve the lives of individuals with genetic and developmental differences.
|Study Design:||Observational Model: Family-Based
Time Perspective: Cross-Sectional
|Official Title:||Simons VIP Recruitment|
Whole blood will be collected for the purposes of DNA analysis and for some participants to establish a cell line that can be used for research-related purposes.
|Study Start Date:||October 2010|
|Estimated Study Completion Date:||July 2012|
|Estimated Primary Completion Date:||July 2012 (Final data collection date for primary outcome measure)|
Individuals with documented 16p11.2 deletions.
Individuals with documented 16p11.2 duplications
|Contact: Andrea M Paal, MSfirstname.lastname@example.org|
|Contact: Audrey L Bibb, MSemail@example.com|
|United States, Massachusetts|
|Children's Hospital of Boston, Harvard University||Recruiting|
|Boston, Massachusetts, United States, 02115|
|Contact: Ellen Hanson, Ph.D. 617-355-4212|
|United States, Texas|
|Baylor College of Medicine||Not yet recruiting|
|Houston, Texas, United States, 76798|
|Contact: Robin Kochel 832-824-3390|
|United States, Washington|
|University of Washington||Recruiting|
|Seattle, Washington, United States, 98195|
|Contact: Raphe Bernier, Ph.D. firstname.lastname@example.org|
|Principal Investigator:||W. Andrew Faucett, M.S.||Emory University|