Online program for families with genetic changes linked to autism

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

Observational Simons Searchlight · NCT01238250

This study is trying to see how an online program can help families with genetic changes related to autism by gathering their health and development information.

Quick facts

Study typeObservational
Enrollment100000 (estimated)
SexAll
SponsorSimons Searchlight Academic / other
Locations2 sites (Boston, Massachusetts and 1 other locations)
Trial IDNCT01238250 on ClinicalTrials.gov

What this trial studies

Simons Searchlight is an observational, international research initiative that gathers medical, behavioral, learning, and developmental information from individuals with rare genetic variants associated with neurodevelopmental disorders and autism. The program allows families to participate remotely, providing flexibility in their involvement. Participants can contribute biological samples, such as blood or saliva, which are linked to their data to enhance understanding of the impact of specific genetic changes. The collected information is anonymized and shared with qualified researchers to improve clinical care and treatment options.

Who should consider this trial

Good fit: Ideal candidates include individuals of any age with specific genetic conditions related to autism, along with their biological family members.

Not a fit: Patients with genetic changes that are not eligible for the study, as determined by genetic counselors, may not benefit from this program.

Why it matters

Potential benefit: If successful, this program could lead to improved clinical care and targeted treatments for individuals with genetic conditions linked to autism.

How similar studies have performed: Other studies focusing on genetic variants and neurodevelopmental disorders have shown promise, indicating that this approach could yield valuable insights.

Eligibility criteria

Show full inclusion / exclusion criteria
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.

Where this trial is running

Boston, Massachusetts and 1 other locations

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions 16P11.2 Deletion Syndrome16p11.2 Duplications1Q21.1 Deletion1Q21.1 Microduplication SyndromeACTL6BADNPAHDC1ANK2
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.