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Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight

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ClinicalTrials.gov Identifier: NCT01238250
Recruitment Status : Recruiting
First Posted : November 10, 2010
Last Update Posted : November 23, 2020
Sponsor:
Collaborators:
Geisinger Clinic
Columbia University
Simons Foundation
Information provided by (Responsible Party):
Simons Searchlight

Tracking Information
First Submitted Date November 9, 2010
First Posted Date November 10, 2010
Last Update Posted Date November 23, 2020
Study Start Date October 2010
Estimated Primary Completion Date October 2050   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: April 6, 2020)
Baseline comprehensive collection of medical, behavioral, learning, and developmental information of people who have documented gene changes that are associated with features of autism and other neurodevelopmental disorders. [ Time Frame: Baseline data is collected over the course of one month, on average. ]
Families with people who have specific documented gene changes that are associated with features of autism and other neurodevelopmental disorders will report detailed medical and family history information by phone. 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 people.
Original Primary Outcome Measures Not Provided
Change History
Current Secondary Outcome Measures
 (submitted: April 6, 2020)
Longitudinal, or long-term, comprehensive collection of medical, behavioral, learning, and developmental information from people who have documented gene changes that are associated with features of autism and other neurodevelopmental disorders. [ 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 the development of people who have gene changes that are related to autism and other neurodevelopmental disorders, online research surveys and updates to the family and medical history will be collected on an annual basis.
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
Official Title Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
Brief Summary Simons Searchlight collects medical, behavioral, learning, and developmental information from people who have gene changes that are linked to autism and other neurodevelopmental disorders. The goal of this study is to improve the clinical care and treatment for these people. Simons Searchlight partners with families to collect data and distribute it to qualified researchers.
Detailed Description

Simons Searchlight has expanded over the last several years to include additional gene changes and participation through remote formats, either online or by phone. This allows English and Spanish-speaking families from across the world to participate at times that are convenient to their schedule. Participants can donate blood, saliva, or both. These samples are then linked to medical, behavioral, learning, and developmental data in order to understand the effects of specific gene changes.

Information provided by participants 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 people who have genetic and developmental differences.

Study Type Observational
Study Design Observational Model: Family-Based
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
Description:
Whole blood, and sometimes saliva, may be collected for the purposes of DNA analysis. Some samples will be used to establish a cell line to be used for research-related purposes.
Sampling Method Non-Probability Sample
Study Population

The study continues to enroll and collect data from people who have the copy number variants, also called CNVs, and gene changes, specified above. Data is also collected from matched sibling control subjects and parents.

This study has already collected data on approximately 7,000 participants, including approximately 4,000 carriers. Participants include people who have a gene change and at least one parent or guardian. Participants can also include multiple people who have a gene change and are within the same family.

Condition
  • 16P11.2 Deletion Syndrome
  • 16p11.2 Duplications
  • 1Q21.1 Deletion
  • 1Q21.1 Microduplication Syndrome (Disorder)
  • ACTL6B
  • ADNP
  • AHDC1
  • ANK2
  • ANKRD11
  • ARID1B
  • ASH1L
  • ASXL1 Gene Mutation
  • BCL11A
  • CHAMP1
  • CHD2
  • CHD8
  • CSNK2A1
  • CTBP1
  • CTNNB1 Gene Mutation
  • CUL3
  • DDX3X
  • DNMT3A
  • DSCAM
  • DST (Dystonin) Related Epidermolysis Bullosa Simplex
  • DYRK1A
  • FOXP1
  • GRIN2A
  • GRIN2B
  • HIVEP2-Related Intellectual Disability
  • HNRNPH2
  • KATNAL2
  • KDM5B
  • KDM6B
  • KMT2C Gene Mutation
  • KMT2E
  • KMT5B
  • MBD5
  • MED13L
  • PACS1
  • PBRM1
  • PPP2R5D-Related Intellectual Disability
  • PTCHD1
  • REST
  • SCN2A Encephalopathy
  • SETBP1 Gene Mutation
  • SETD5
  • SMARCA4 Gene Mutation
  • SMARCC1
  • SMARCC2
  • STXBP1 Encephalopathy With Epilepsy
  • SYNGAP1-Related Intellectual Disability
  • TBR1
  • ARHGEF9
  • HNRNPU
  • PPP3CA
  • PPP2R1A
  • SLC6A1
  • 2p16.3 Deletions
  • 5q35 Deletions
  • 5q35 Duplications
  • 7q11.23 Duplications
  • 15Q13.3 Deletion Syndrome
  • 16p11.2 Triplications
  • 16P12.2 Microdeletion
  • 16P13.11 Microdeletion Syndrome (Disorder)
  • 17Q12 Microdeletion Syndrome (Disorder)
  • 17Q12 Duplication Syndrome
  • 17Q21.31 Deletion Syndrome
  • 17q21.3 Duplications
  • ACTB
  • ADSL
  • AFF2
  • ALDH5A1
  • ANK3
  • ARX
  • ATRX Gene Mutation
  • AUTS2 Syndrome
  • BAZ2B
  • BCKDK
  • BRSK2
  • CACNA1C
  • CAPRIN1
  • CASK
  • CASZ1
  • CHD3
  • CIC
  • CNOT3
  • CREBBP Gene Mutation
  • CSDE1
  • CTCF
  • DEAF1
  • DHCR7
  • DLG4
  • DMPK
  • EBF3
  • EHMT1
  • EP300 Gene Mutation
  • GIGYF1
  • GIGYF2
  • GRIN1
  • GRIN2D
  • IQSEC2-Related Syndromic Intellectual Disability
  • IRF2BPL
  • KANSL1
  • KCNB1
  • KDM3B
  • NEXMIF
  • KMT2A
  • MBOAT7
  • MED12 Gene Mutation
  • MEIS2
  • MYT1L
  • NAA15
  • NBEA
  • NCKAP1
  • NIPBL
  • NLGN2
  • NLGN3
  • NLGN4X
  • NR4A2
  • NRXN1
  • NRXN2
  • NRXN3
  • NSD1 Gene Mutation
  • PHF21A
  • PHF3
  • PHIP
  • POMGNT1
  • PSMD12
  • RELN
  • RERE
  • RFX3
  • RIMS1
  • RORB
  • SCN1A
  • SCN8A Encephalopathy
  • SETD2 Gene Mutation
  • SHANK2
  • SIN3A
  • SLC9A6
  • SON
  • SOX5
  • SPAST
  • SRCAP
  • TAOK1
  • TANC2
  • TCF20
  • TLK2
  • TRIO
  • TRIP12
  • TSHZ3
  • UPF3B
  • USP9X
  • VPS13B
  • WAC
  • WDFY3
  • ZBTB20
  • ZNF292
  • ZNF462
  • 2Q37 Deletion Syndrome
  • 9q34 Duplications
  • 5q15 Deletions
  • 5q24 Deletions
  • NR3C2
  • SYNCRIP
  • 15q15 Deletions
  • Additional Genetic Changes Associated With Autism May be Added as Identified
Intervention Not Provided
Study Groups/Cohorts
  • Copy Number Variants
    Individuals with documented pathogenic or likely pathogenic copy number variants related to autism and other neurodevelopmental disorders.
  • Gene Variants
    Individuals with documented pathogenic or likely pathogenic variants in a gene related to autism and other neurodevelopmental disorders.
Publications *

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: January 7, 2015)
5000
Original Estimated Enrollment
 (submitted: November 9, 2010)
200
Estimated Study Completion Date October 2050
Estimated Primary Completion Date October 2050   (Final data collection date for primary outcome measure)
Eligibility Criteria

Inclusion Criteria:

Inclusion criteria will be any person of any age with a confirmed genetic diagnosis, or positive genetic testing results, in any of the following genes or genomic regions:

Gene changes include deletions, or duplications, or both, in the copy number variants or changes in the single genes mentioned on the list above. This can include pathogenic, likely pathogenic, and in some cases, variants of unknown significance, also called VUS.

Both biological parents are encouraged to participate. Participants must be able to speak and read English or Spanish fluently.

Any person who have features of autism and 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 people who do not have the CNVs or genetic variants in the genes specified above, or people who do not speak and read English or Spanish.

Sex/Gender
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers No
Contacts
Contact: Simons Searchlight Study Coordinator 855-329-5638 coordinator@SimonsSearchlight.org
Listed Location Countries United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT01238250
Other Study ID Numbers 2011-0320
Simons Searchlight ( Other Identifier: Simons Foundation )
Simons VIP ( Other Identifier: Simons Foundation )
Simons VIP Connect ( Other Identifier: Simons Foundation )
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
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)
Responsible Party Simons Searchlight
Study Sponsor Simons Searchlight
Collaborators
  • Geisinger Clinic
  • Columbia University
  • Simons Foundation
Investigators
Principal Investigator: Cora Taylor, PhD Geisinger Clinic
Principal Investigator: Wendy Chung, MD PhD CUMC/New York-Presbyterian Morgan Stanley Children's Hospital
PRS Account Simons Searchlight
Verification Date November 2020