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

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

Sponsors

Lead Sponsor: Simons Searchlight

Collaborator: Geisinger Clinic
Columbia University
Simons Foundation

Source 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.

Overall Status Recruiting
Start Date October 2010
Completion Date October 2050
Primary Completion Date October 2050
Study Type Observational
Primary Outcome
Measure 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. Baseline data is collected over the course of one month, on average.
Secondary Outcome
Measure 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. Repeat data collection will occur on a regular basis and will be obtained over the course of one month, on average
Enrollment 5000
Condition
Eligibility

Sampling Method: Non-Probability Sample

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.

Gender: All

Minimum Age: N/A

Maximum Age: N/A

Healthy Volunteers: No

Overall Official
Overall Contact

Last Name: Simons Searchlight Study Coordinator

Phone: 855-329-5638

Email: [email protected]

Location
Facility: Status: Contact:
CUMC/New York-Presbyterian Morgan Stanley Children's Hospital | New York, New York, 10032, United States Recruiting Wendy Chung, MD PhD 212-305-5890
Geisinger Health System | Lewisburg, Pennsylvania, 17837, United States Recruiting Cora Taylor, PhD 570-522-9430
Location Countries

United States

Verification Date

November 2020

Responsible Party

Type: Sponsor

Keywords
Has Expanded Access No
Condition Browse
Arm Group

Label: Copy Number Variants

Description: Individuals with documented pathogenic or likely pathogenic copy number variants related to autism and other neurodevelopmental disorders.

Label: Gene Variants

Description: Individuals with documented pathogenic or likely pathogenic variants in a gene related to autism and other neurodevelopmental disorders.

Patient Data Yes
Study Design Info

Observational Model: Family-Based

Time Perspective: Prospective

Source: ClinicalTrials.gov