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
  Purpose

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.


Condition
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

Study Type: Observational
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)

Resource links provided by NLM:


Further study details as provided by Simons VIP Connect:

Primary Outcome Measures:
  • 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.


Secondary Outcome Measures:
  • 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


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: 5000
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)
Groups/Cohorts
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

Detailed Description:

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.

  Eligibility

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

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.

Criteria

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.

  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 ClinicalTrials.gov identifier: NCT01238250

Contacts
Contact: Bethanny Smith-Packard, MS 570-214-9136 bspackard@geisinger.edu
Contact: Simons VIP Study Coordinator 855-329-5638 coordinator@simonsvipconnect.org

Locations
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    bspackard@geisinger.edu   
Sponsors and Collaborators
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
Investigators
Principal Investigator: W. Andrew Faucett, M.S. Geisinger Clinic
  More Information

Additional Information:
Publications:

Responsible Party: Simons VIP Connect
ClinicalTrials.gov Identifier: NCT01238250     History of Changes
Other Study ID Numbers: 2011-0320, Simons VIP Connect
Study First Received: November 9, 2010
Last Updated: January 7, 2015
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
1q21.1
1q21.1 del
1q21.1 deletion
1q21.1 dup
1q21.1 duplication
chromosome 1
chromosome 1q
chromosome 1q21
chromosome 1q21.1
genetic mutation
genetic variant
gene variant
autism
ADNP
ANKRD1
ARID1B
ASXL3
BAF105
BAF180
BAF190
BAF35

Additional relevant MeSH terms:
Autistic Disorder
Child Development Disorders, Pervasive
Mental Disorders
Mental Disorders Diagnosed in Childhood

ClinicalTrials.gov processed this record on June 30, 2015