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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
Sponsor:
Collaborators:
Simons Foundation
Emory University
Harvard University
Baylor University
University of Washington
Information provided by:
Simons VIP Connect
ClinicalTrials.gov Identifier:
NCT01238250
First received: November 9, 2010
Last updated: January 26, 2011
Last verified: November 2010

November 9, 2010
January 26, 2011
October 2010
July 2012   (final data collection date for primary outcome measure)
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Complete list of historical versions of study NCT01238250 on ClinicalTrials.gov Archive Site
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Clinical Study of Individuals With 16p11.2 Deletions or Duplications
Simons VIP Recruitment

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.

Not Provided
Observational
Observational Model: Family-Based
Time Perspective: Cross-Sectional
Not Provided
Retention:   Samples With DNA
Description:

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.

Non-Probability Sample

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.

  • 16p11.2 Deletions
  • 16p11.2 Duplications
Not Provided
  • 16p11.2 Deletions
    Individuals with documented 16p11.2 deletions.
  • 16p11.2 Duplications
    Individuals with documented 16p11.2 duplications
Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, Fossdal R, Saemundsen E, Stefansson H, Ferreira MA, Green T, Platt OS, Ruderfer DM, Walsh CA, Altshuler D, Chakravarti A, Tanzi RE, Stefansson K, Santangelo SL, Gusella JF, Sklar P, Wu BL, Daly MJ; Autism Consortium. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med. 2008 Feb 14;358(7):667-75. Epub 2008 Jan 9.

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruiting
200
July 2012
July 2012   (final data collection date for primary outcome measure)

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.
Both
Not Provided
No
Contact: Andrea M Paal, MS 404-778-3213 andrea.paal@emory.edu
Contact: Audrey L Bibb, MS 404-778-8597 a.l.bibb@emory.edu
United States
 
NCT01238250
00046352, Simons VIP Connect
No
W. Andrew Faucett, Emory University
Simons VIP Connect
  • Simons Foundation
  • Emory University
  • Harvard University
  • Baylor University
  • University of Washington
Principal Investigator: W. Andrew Faucett, M.S. Emory University
Simons VIP Connect
November 2010

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP