Online Study of Individuals With Genetic Changes and Features of Autism: Simons Variation in Individuals Project (Simons VIP)
ADNP (ADNP1, KIAA0784)
ANKRD1 (ANCO1, T13, LZ16)
BAF180 (PBRM1, PB1)
BCL11A (CTIP1, EVI9, KIAA1809, FLJ10173)
CHD8 (KIAA1564, DUPLIN)
CUL3 (Cullin 3, PHA2E, KIAA0617)
DST (BPAG1, BP240)
GRIN2B (NMDAR2B, NR2B)
KDM6B (JMJD3, KIAA0346)
MED13L (THRAP2, PROSIT240, TRAP240L, KIAA1025)
PTEN (PTEN1, MMAC1)
Additional Genetic Changes Associated With Autism May be Added as Identified
|Study Design:||Observational Model: Family-Based
Time Perspective: Prospective
|Official Title:||Online Study of Individuals With Genetic Changes and Features of Autism: Simons Variation in Individuals Project (Simons VIP Phase 2)|
- 1. Baseline comprehensive collection of the medical, behavioral, and learning features of individuals with documented genetic changes associated with features of autism and developmental delay [ Time Frame: Baseline data is collected over the course of one month, on average. ]Families with individuals who have specific documented genetic changes associated with features of autism and developmental delay will report detailed medical and family history information by phone, while online research surveys will be used to collect information about behavioral and learning characteristics, with the goal of improving clinical care and treatment for these individuals.
- Longitudinal (long-term) comprehensive collection of the medical, behavioral, and learning features of individuals with documented genetic changes associated with features of autism and developmental delay [ Time Frame: Repeat data collection will occur on a regular basis and will be obtained over the course of one month, on average ]To monitor and document how features of genetic changes related to autism and developmental delay change as individuals get older, online research surveys and updates to the family and medical history will be collected on an annual basis
Biospecimen Retention: Samples With DNA
|Study Start Date:||October 2010|
|Estimated Study Completion Date:||July 2018|
|Estimated Primary Completion Date:||July 2018 (Final data collection date for primary outcome measure)|
Individuals with documented 16p11.2 deletions.
Individuals with documented 16p11.2 duplications
Individuals with documented 1q21.1 deletions
Individuals with documented 1q21.1 duplications
Single Gene Variants
Individuals with documented pathogenic or likely pathogenic variants in a gene related to autism spectrum disorder and/or developmental delay
In Phase 2 (currently enrolling), the study has expanded to include more families with genetic changes by including additional genetic changes of interest and offering participation through a remote (online, phone) format. This allows English-speaking families from across the world to participate at times convenient to their schedule. Biospecimens will be collected from participants and linked to clinical data in order to understand the relationship between specific genetic changes and the brain's development.
In Phase 1 (now closed to enrollment), the project assembled a team of experts at seven premier medical centers to collect detailed clinical information from families through in-person visits. This information has helped 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 qualified scientists around the world.
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.
Please refer to this study by its ClinicalTrials.gov identifier: NCT01238250
|Contact: Simons VIP Study Coordinatorfirstname.lastname@example.org|
|Contact: Bethanny Smith-Packard, M.S.||email@example.com|
|United States, Pennsylvania|
|Geisinger Health System||Recruiting|
|Danville, Pennsylvania, United States, 17822|
|Contact: W. Andrew Faucett, MS 570-214-4862|
|Contact: Bethanny Smith-Packard, MS 570-214-9136 firstname.lastname@example.org|
|Principal Investigator:||W. Andrew Faucett, M.S.||Geisinger Clinic|