Comment Period Extended to 3/23/2015 for Notice of Proposed Rulemaking (NPRM) for FDAAA 801 and NIH Draft Reporting Policy for NIH-Funded Trials

Online Study of Individuals With Genetic Changes and Features of Autism: Simons Variation in Individuals Project (Simons VIP)

This study is currently recruiting participants. (see Contacts and Locations)
Verified January 2015 by Simons VIP Connect
Sponsor:
Collaborators:
Geisinger Clinic
Columbia University
Patient Crossroads
Harvard University
Baylor University
University of Washington
University of California, San Francisco
Children's Hospital of Philadelphia
Simons Foundation
Information provided by (Responsible Party):
Simons VIP Connect
ClinicalTrials.gov Identifier:
NCT01238250
First received: November 9, 2010
Last updated: January 7, 2015
Last verified: January 2015

November 9, 2010
January 7, 2015
October 2010
July 2018   (final data collection date for primary outcome measure)
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. ] [ Designated as safety issue: No ]
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.
Not Provided
Complete list of historical versions of study NCT01238250 on ClinicalTrials.gov Archive Site
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 ] [ Designated as safety issue: No ]
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 every 6 months for children ages 7 years and younger and annually for individuals 8+ years old
Not Provided
Not Provided
Not Provided
 
Online Study of Individuals With Genetic Changes and Features of Autism: Simons Variation in Individuals Project (Simons VIP)
Online Study of Individuals With Genetic Changes and Features of Autism: Simons Variation in Individuals Project (Simons VIP Phase 2)

The Simons Variation in Individuals Project (VIP) is characterizing the medical, behavioral, and learning features of individuals with specific documented genetic changes associated with features of autism and developmental delay with the goal of improving clinical care and treatment for these individuals.

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.

Observational
Observational Model: Family-Based
Time Perspective: Prospective
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

The study continues to enroll and collect data from individuals with 16p11.2 and 1q21 CNVs in addition to the genetic changes associated with autism, specified above. Data is also collected from matched sibling control subjects and parents.

This study has already collected data on approximately 100 individuals with a 16p11.2 deletion, 100 individuals with a 16p11.2 duplication, 10 individuals with a 1q21.1 deletion, 10 individuals with a 1q21.1 duplication and approximately 220 matched sibling control subjects and 440 parents.

  • 16p11.2 Deletions
  • 16p11.2 Duplications
  • 1q21.1 Deletions
  • 1q21.1 Duplications
  • ADNP (ADNP1, KIAA0784)
  • ANKRD1 (ANCO1, T13, LZ16)
  • ARID1B (BAF250B)
  • ASXL3 (KIAA1713)
  • BAF105
  • BAF180 (PBRM1, PB1)
  • BAF190 (SMARCA4/SMARCA2)
  • BAF35 (BCL7B)
  • BAF35b (ACTL6B)
  • BCL11A (CTIP1, EVI9, KIAA1809, FLJ10173)
  • CHD2
  • CHD8 (KIAA1564, DUPLIN)
  • CTNNB1 (CTNNB)
  • CUL3 (Cullin 3, PHA2E, KIAA0617)
  • DST (BPAG1, BP240)
  • DYRK1A
  • FOXP1 (QRF1)
  • GRIN2B (NMDAR2B, NR2B)
  • KDM6B (JMJD3, KIAA0346)
  • KMT2E (MLL5)
  • MBD5 (KIAA1461)
  • MED13L (THRAP2, PROSIT240, TRAP240L, KIAA1025)
  • PTEN (PTEN1, MMAC1)
  • REST (NRSF)
  • SCN2A
  • SMARCC1 (BAF155)
  • SMARCC2 (BAF170)
  • SYNGAP1
  • Additional Genetic Changes Associated With Autism May be Added as Identified
Not Provided
  • 16p11.2 Deletions
    Individuals with documented 16p11.2 deletions.
  • 16p11.2 Duplications
    Individuals with documented 16p11.2 duplications
  • 1q21.1 Deletions
    Individuals with documented 1q21.1 deletions
  • 1q21.1 Duplications
    Individuals with documented 1q21.1 duplications
  • Single Gene Variants
    Individuals with documented pathogenic variants in one the Simons VIP specified genes listed above

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruiting
5000
July 2018
July 2018   (final data collection date for primary outcome measure)

Inclusion Criteria:

  • Inclusion criteria will be any individual of any age with a confirmed genetic diagnosis (or has had positive genetic testing results) in any of the following genes or genomic regions:

    1. 16p11.2 deletion or duplication (del/dup) defined as equal to or larger and including the 16p11.2 susceptibility region 2. 1q21.1 deletion or duplication (del/dup) defined as equal to or larger and including the 1q21.1 susceptibility region 3. Pathogenic variant (mutation) in any of the genes specified above. This includes deletions meeting the following criteria: (i) Deletion includes all or part of a single gene listed above (ii) Deletion size is less than 2 MB (iii) Deletion includes less than or equal to 5 genes (in addition to gene of interest) with no known disease association

  • Both biological parents are encouraged to participate. Participants must be able to speak and read English fluently.
  • Any individual with features of autism who has had genetic testing and a known genetic diagnosis may be eligible to participate; contact the study team for more information.

Exclusion Criteria:

- Exclusion criteria will include individuals who do not have the CNVs or genetic variants in the genes specified about, or individuals who do not speak and read English fluently.

Individuals who do not have a genetic variation in one of the above listed genes or regions are still encouraged to join the online community and submit a laboratory report for review. Our study may expand to include more genes if greater than five unrelated individuals with the same genetic variation register at Simons VIP Connect.

Both
Not Provided
No
Contact: Bethanny Smith-Packard, MS 570-214-9136 bspackard@geisinger.edu
Contact: Simons VIP Study Coordinator 855-329-5638 coordinator@simonsvipconnect.org
United States
 
NCT01238250
2011-0320, Simons VIP Connect
No
Simons VIP Connect
Simons VIP Connect
  • Geisinger Clinic
  • Columbia University
  • Patient Crossroads
  • Harvard University
  • Baylor University
  • University of Washington
  • University of California, San Francisco
  • Children's Hospital of Philadelphia
  • Simons Foundation
Principal Investigator: W. Andrew Faucett, M.S. Geisinger Clinic
Simons VIP Connect
January 2015

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