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

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ClinicalTrials.gov Identifier: NCT01238250
Recruitment Status : Recruiting
First Posted : November 10, 2010
Last Update Posted : December 21, 2017
Sponsor:
Collaborators:
Geisinger Clinic
Columbia University
Invitae
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

Brief Summary:
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 or disease
16p11.2 Deletions 16p11.2 Duplications 1q21.1 Deletions 1q21.1 Duplications ACTL6B ADNP AHDC1 ANK2 ANKRD11 ARID1B ASH1L ASXL3 BCL11A CHAMP1 CHD2 CHD8 CSNK2A1 CTBP1 CTNNB1 CUL3 DDX3X DNMT3A DSCAM DST DYRK1A FOXP1 GRIN2A GRIN2B HIVEP2 HNRNPH2 KAT6A KATNAL2 KDM5B KDM6B KMT2C KMT2E KMT5B (Previously SUV420H1) MBD5 MED13L PACS1 PBRM1 POGZ PPP2R5D PTCHD1 PTEN PURA REST SCN2A SETBP1 SETD5 SMARCA4 (BAF190) SMARCC1 SMARCC2 STXBP1 SYNGAP1 TBR1 Additional Genetic Changes Associated With Autism May be Added as Identified

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.


Study Type : Observational
Estimated Enrollment : 5000 participants
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)
Study Start Date : October 2010
Estimated Primary Completion Date : July 2018
Estimated Study Completion Date : July 2018


Group/Cohort
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 or likely pathogenic variants in a gene related to autism spectrum disorder and/or developmental delay



Primary Outcome Measures :
  1. 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.


Secondary Outcome Measures :
  1. 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
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.


Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
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.


Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01238250


Contacts
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: Cora Taylor, PhD    570-522-9430      
Sponsors and Collaborators
Simons VIP Connect
Geisinger Clinic
Columbia University
Invitae
Harvard University
Baylor University
University of Washington
University of California, San Francisco
Children's Hospital of Philadelphia
Simons Foundation
Investigators
Principal Investigator: Cora Taylor, PhD Geisinger Clinic

Publications:

Responsible Party: Simons VIP Connect
ClinicalTrials.gov Identifier: NCT01238250     History of Changes
Other Study ID Numbers: 2011-0320
Simons VIP Connect ( Other Identifier: Simons Foundation )
First Posted: November 10, 2010    Key Record Dates
Last Update Posted: December 21, 2017
Last Verified: December 2017
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description: Identifiers will be removed from data which will be stored in a secure database; qualified researchers can request access through the Simons Foundation Autism Research Initiative (www.SFARI.org)

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
ANKRD11
ARID1B
ASXL3
ACTL6B
AHDC1
BAF190
ANK2

Additional relevant MeSH terms:
Autistic Disorder
Child Development Disorders, Pervasive
Neurodevelopmental Disorders
Mental Disorders