Clinical Study of Individuals With 16p11.2 Deletions or Duplications
Recruitment status was Recruiting
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Purpose
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.
| Condition |
|---|
|
16p11.2 Deletions 16p11.2 Duplications |
| Study Type: | Observational |
| 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.
| 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) |
| Groups/Cohorts |
|---|
|
16p11.2 Deletions
Individuals with documented 16p11.2 deletions.
|
|
16p11.2 Duplications
Individuals with documented 16p11.2 duplications
|
Eligibility| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | No |
| Sampling Method: | 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.
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| 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, 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. rab2@u.washington.edu | |
| Principal Investigator: | W. Andrew Faucett, M.S. | Emory University |
More Information
Additional Information:
Publications:
| Responsible Party: | W. Andrew Faucett, Emory University |
| ClinicalTrials.gov 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 16p11.2 del 16p11.2 deletion 16p11.2 dup 16p11.2 duplication |
chromosome 16 chromosome 16p chromosome 16p11 chromosome 16p11.2 |
ClinicalTrials.gov processed this record on May 22, 2013