CSO Corner Volume 13: Building a Kleefstra Syndrome Presence In Simons Searchlight

Hello fellow members of our KS family! 

As I discussed last time, we are building incredible momentum on our path to clinical trial readiness, largely because of all the hard work you have all done.  With a strong presence on platforms like Rare-X and Citizen Health, we have built a fantastic foundation for researchers to understand the clinical presentation of Kleefstra syndrome. However, there is one other platform that is beloved by researchers and has developed into a genuine powerhouse in studying rare neurodevelopmental disorders: Simons Searchlight.

As a community, we have developed a foothold on Simons Searchlight, but we would “complete the trifecta” if we drastically expanded our participation in this resource, to go along with our presence in Rare-X and Citizen Health.

If that’s all you needed to hear: great! Scroll down for more information on why/how to join Simons Searchlight, from a patient perspective. If you would like to know more about the value of the Simons Searchlight approach to researchers, read on:

Simons Searchlight is an active research program, not just a data repository. It’s a long-term study that doesn’t just collect patient information—it actively curates it. When patients participate, they answer a variety of surveys and provide records about development, behavior, and medical history, at regular intervals. Simons Searchlight collects data using standardized methods, which allows them to compare apples to apples, not just within our KS community, but across the dozens of other rare genetic neurodevelopmental conditions in the project. Simons Searchlight will also collect blood samples from patients that consent to this, allowing them to have both the data on each patient’s phenotype, and matched biological samples.

For researchers, this sort of data is a goldmine: top-tier researchers from around the globe use the Simons database because they trust the quality and consistency of the data. This data has contributed to a huge body of scientific publications that have expanded scientific knowledge about rare neurodevelopmental disorders. For researchers, a large cohort of patients in Searchlight is like a giant neon sign that says, “Study This Condition!”

This is our chance to put the KS community on one of the most important maps in rare disease research. See below for more!

Until next time,

Eric Scheeff, PhD

IDefine Chief Scientific Officer

Simons Searchlight is an international online research program registry that works with families and researchers around the world to help speed up research on rare genetic neurodevelopmental disorders. Simons Searchlight is funded by the Simons Foundation Autism Research Initiative (SFARI) which aims to better understand rare genetic neurodevelopmental conditions, specifically those associated with autism spectrum disorder (ASD).

By collecting detailed family, medical, developmental and behavioral information through online surveys and phone interviews as well as blood samples, Simons Searchlight takes a deep dive into these disorders. They share the information and blood samples with leading geneticists and scientists around the world to use to improve the lives of people living with rare genetic neurodevelopmental disorders. Participation is open worldwide to people who speak English, Dutch, French, German, Italian, Portuguese and Spanish.

People of any age with a Kleefstra syndrome diagnosis and their family members can sign up. Participants may have a diagnosis of autism, epilepsy, language impairments, or intellectual disability, but none of these is a requirement to join. Register today

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If you have any questions, please contact their Study Coordinators at coordinator@simonssearchlight.org.