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

June 3, 2025 updated by: Simons Searchlight
Simons Searchlight is an observational, online, international research program for families with rare genetic variants that cause neurodevelopmental disorders and may be associated with autism. Simons Searchlight collects medical, behavioral, learning, and developmental information from people who have these rare genetic changes. 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.

Study Overview

Status

Recruiting

Conditions

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

Enrollment (Estimated)

100000

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • United States
    • Massachusetts
      • Boston, Massachusetts, United States, 02115
        • Recruiting
        • Boston Children's Hospital
        • Contact:
          • Wendy Chung, MD PhD
          • Phone Number: 855-329-5638
    • Pennsylvania
      • Lewisburg, Pennsylvania, United States, 17837
        • Recruiting
        • Geisinger Health System
        • Contact:
          • Cora Taylor, PhD
          • Phone Number: 855-329-5638

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

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. Study aims to enroll up to 100,000 participants.

Description

Inclusion Criteria:

  • Subjects of any age with a genetic condition on our eligible list along with their biological family members. Current list can be found at: https://www.simonssearchlight.org/research/what-we-study/
  • Must be fluent in English or a supported language. Current supported languages are Spanish, French, and Dutch, with more to come.
  • Able to register and participate through our online platform, which can be accessed through any device able to connect to the internet.
  • Able and willing to provide consent.

Exclusion Criteria:

-Some genetic changes that we study have regions or variants that are not eligible for our research. This is determined during our laboratory review that is completed by trained and certified genetic counselors. These specific ineligible regions or variants can change frequently.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Family-Based
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
Copy Number Variants
Individuals with documented pathogenic or likely pathogenic copy number variants related to neurodevelopmental disorders.
Gene Variants
Individuals with documented pathogenic or likely pathogenic variants in a gene related to neurodevelopmental disorders.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
Baseline data is collected over the course of one month, on average.

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
Repeat data collection will occur on a regular basis and will be obtained over the course of one month, on average

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Simons Searchlight

Collaborators

Boston Children's Hospital
Geisinger Clinic
Simons Foundation

Investigators

  • Principal Investigator: Cora Taylor, PhD, Geisinger Clinic
  • Principal Investigator: Wendy Chung, MD PhD, Boston Children's Hospital

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

October 1, 2010

Primary Completion (Estimated)

October 1, 2050

Study Completion (Estimated)

October 1, 2050

Study Registration Dates

First Submitted

November 9, 2010

First Submitted That Met QC Criteria

November 9, 2010

First Posted (Estimated)

November 10, 2010

Study Record Updates

Last Update Posted (Actual)

June 6, 2025

Last Update Submitted That Met QC Criteria

June 3, 2025

Last Verified

June 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 2023-1257
  • Simons Searchlight (Other Identifier: Simons Foundation)
  • Simons VIP (Other Identifier: Simons Foundation)
  • Simons VIP Connect (Other Identifier: Simons Foundation)

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

YES

IPD 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)

Drug and device information, study documents

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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