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 that Steve was exhibiting signs of Fragile X-associated tremor/ataxia syndrome (FXTAS) and eventually prompted his diagnosis. Research also identified that 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.
We have exciting news in Fragile X premutation research!
Fragile X research is expanding beyond FXS to include premutation-associated conditions like FXTAS. A new federally funded clinical trial readiness project is now underway — a major step forward for the premutation community.
Why This Matters: This project focuses on identifying biomarkers and endpoints, two critical areas where Fragile X trials have historically faced challenges. Success here is essential for developing effective FXTAS treatments.
How Weʼre Helping: Federal funding is competitive, and doesnʼt cover everything. Weʼre filling a crucial gap by providing the funding to support the collection of biological samples needed to identify these biomarkers and endpoints. This groundwork significantly increases the likelihood that future FXTAS trials will succeed.
