Online program for families with genetic changes linked to autism

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• Boston Children's Hospital
  Boston, Massachusetts, United States Recruiting
• Geisinger Health System
  Lewisburg, Pennsylvania, United States Recruiting

Study contacts

• Principal investigator: Cora Taylor, PhD — Geisinger Clinic
• Study coordinator: Simons Searchlight Study Coordinator
• Email: coordinator@SimonsSearchlight.org
• Phone: 855-329-5638

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• TAP-GRIN: L‑serine for GRIN-related neurodevelopmental disorders

  This trial will test whether oral L‑serine helps children and young adults (ages 2–30) who have GRIN-related neurodevelopmental disorders caused by loss-of-function variants.

  Recruiting at 2 sites Phase 3 Meyer Children's Hospital IRCCS · Lyon and 2 other locations · NCT07377032

• Natural history study of STXBP1 and SYNGAP1 related disorders

  This study is trying to learn more about STXBP1 and SYNGAP1 related disorders by collecting information from participants over five years to help improve future treatments.

  Recruiting at 5 sites Children's Hospital of Philadelphia · Palo Alto, California and 4 other locations · NCT06555965

• Collection of bio-specimens from patients with RASopathies

  This study is collecting samples from people with RASopathies to help researchers learn more about these rare genetic disorders and how they affect the body.

  Recruiting Children's Hospital Medical Center, Cincinnati · Cincinnati, Ohio · NCT04395495

• Remote feasibility test of phenylbutyrate for SLC6A1-related disorders

  This study tests a fully remote treatment approach using phenylbutyrate for people with SLC6A1-related disorders to see if a site-less trial is doable and safe.

  Recruiting Phase 2 Scripps Translational Science Institute · San Diego, California · NCT07847918

• Natural history tracking of MEF2C-related and other developmental and epileptic encephalopathies

  This project will collect medical, seizure, and developmental information over time from children and adults with MEF2C-related DEE and from people with other genetic DEEs to help prepare for future treatments.

  Recruiting Weill Medical College of Cornell University · New York, New York · NCT07413211

• Elsunersen treatment for infants with early-onset SCN2A-related epileptic encephalopathy

  This trial tests whether elsunersen can reduce seizures and is safe in infants and young children with early-onset SCN2A-related developmental and epileptic encephalopathy who have gain-of-function variants.

  Recruiting at 8 sites Phase 3 Praxis Precision Medicines · San Diego, California and 9 other locations · NCT07019922

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.