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

Simons Searchlight100,000 enrolled

Overview

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.

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

100,000

Conditions

16P11.2 Deletion Syndrome 16p11.2 Duplications 1Q21.1 Deletion

Eligibility

Sex: ALL

Medical Language ↔ Plain English

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.

Outcomes

Primary Outcomes

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.

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.

Time frame: Baseline data is collected over the course of one month, on average.

Secondary Outcomes

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.

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.

Time frame: Repeat data collection will occur on a regular basis and will be obtained over the course of one month, on average