Did you know there is a lot of Fragile X research going on — including research for individuals with Fragile X syndrome and the Fragile X premutation?
Meet Jill. Jill’s family represents the genetic and hereditary nature of Fragile X. Jill’s daughter, Carly, was diagnosed with FXS at age 3. After Carly’s diagnosis, Jill and her husband were advised to get tested as well. When Jill found out she carried the Fragile X premutation, it was encouraged to have her parents tested to understand the inheritance pattern.
Jill’s dad, Steve, was identified as also carrying the Fragile X premutation. From that day forward, everyone in Jill’s family participated in research, wanting to do their part to understand more about Fragile X. Research identified Steve was exhibiting signs of Fragile X-associated tremor/ataxia syndrome (FXTAS) and eventually prompted his diagnosis. Research also identified Jill has tremor. Future research feels even more important to Jill and Steve, as they know research leads to potential treatments. While there are currently no treatments for FXTAS, an adult-onset neurodegenerative condition, Jill, Steve, and the entire Fragile X community remain hopeful.
Did you know there is a lot of Fragile X research going on — including research for individuals with Fragile X syndrome and the Fragile X premutation? While there has been great research in Fragile X syndrome for a while now, we are seeing more and more research emerge on important Fragile X premutation-associated conditions like FXTAS, including a new federally funded FXTAS clinical trial readiness project.
This new FXTAS clinical trials readiness grant is integral to the future of FXTAS research including biomarkers and endpoints—areas where Fragile X trials have historically struggled. As you know, federal funding is crucial to moving Fragile X research forward, and it’s also a competitive funding environment.
That’s why we’re providing funding to support collecting biological samples, in order to identify biomarkers and endpoints for future trials. Investing here fills a major gap and advances meaningful progress, laying this groundwork greatly increases the chance of future FXTAS trial success.
Join us in investing in the future of research for the Fragile X premutation.
