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Clinical Study of Individuals With 16p11.2 Deletions or Duplications

The recruitment status of this study is unknown because the information has not been verified recently.
Verified November 2010 by Simons VIP Connect.
Recruitment status was  Recruiting
Simons Foundation
Emory University
Harvard University
Baylor University
University of Washington
Information provided by:
Simons VIP Connect Identifier:
First received: November 9, 2010
Last updated: January 26, 2011
Last verified: November 2010

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.

16p11.2 Deletions
16p11.2 Duplications

Study Type: Observational
Study Design: Observational Model: Family-Based
Time Perspective: Cross-Sectional
Official Title: Simons VIP Recruitment

Further study details as provided by Simons VIP Connect:

Biospecimen Retention:   Samples With DNA

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.

Estimated Enrollment: 200
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)
16p11.2 Deletions
Individuals with documented 16p11.2 deletions.
16p11.2 Duplications
Individuals with documented 16p11.2 duplications


Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

This study aims to collect data on approximately 200 individuals; 100 each with a 16p11.2 deletion or 16p11.2 duplication. Approximately 200 matched sibling control subjects and 400 parents will also be enrolled yielding a total of 800 study subjects.


Inclusion Criteria:

  • Inclusion criteria will be any individual of any age with a 16p11.2 deletion or duplication (del/dup) defined as equal or smaller than 28.5 Mb-31.2 Mb. Both biological parents must be available and willing to participate. Participants must be residents of the United States or Canada.

Exclusion Criteria:

  • Exclusion criteria will include additional known genetic mutations resulting in effect on neurocognitive outcome, deletions or duplications that are larger than the indicated 2.7 Mb interval, or probands and parents who do not speak English fluently. Individuals who reside outside the United States and Canada are currently not eligible to participate.
  Contacts and Locations
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, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01238250

Contact: Andrea M Paal, MS 404-778-3213
Contact: Audrey L Bibb, MS 404-778-8597

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.   
Sponsors and Collaborators
Simons VIP Connect
Simons Foundation
Emory University
Harvard University
Baylor University
University of Washington
Principal Investigator: W. Andrew Faucett, M.S. Emory University
  More Information

Additional Information:
Responsible Party: W. Andrew Faucett, Emory University Identifier: NCT01238250     History of Changes
Other Study ID Numbers: 00046352, Simons VIP Connect
Study First Received: November 9, 2010
Last Updated: January 26, 2011
Health Authority: United States: Institutional Review Board

Keywords provided by Simons VIP Connect:
16p11.2 del
16p11.2 deletion
16p11.2 dup
16p11.2 duplication
chromosome 16
chromosome 16p
chromosome 16p11
chromosome 16p11.2 processed this record on November 27, 2014