Takako Jones, PhD (University of Nevada, Reno School of Medicine)
Current FSHD diagnostics are complex, expensive, and not widely available. In addition, the disease itself has wide variability in age of onset and clinical presentation with many genetically FSHD individuals being asymptomatic well into adulthood. Thus, FSHD is often missed in families until someone is severely affected enough to go to a neurologist and fortunate enough to have proper testing ordered. Importantly, a mildly affected or asymptomatic individual can have much more severely affected children. Thus, the prevalence of FSHD is likely much higher than current estimates and many people in FSHD families are unknowingly at risk for passing clinical FSHD on to their children. Fortunately, we have developed a quick, inexpensive, and highly accurate test for FSHD that can be performed on saliva, making FSHD testing highly accessible and cost-effective. Here, we will perform our FSHD research test for all members of FSHD families who are interested in knowing their FSHD status so they can make informed decisions. This is a research study open to all ages and the results are confidential and do not become part of one’s medical record. However, individuals are free to share their results with their healthcare professionals if they choose. This project will help identify the FSHD patient population regardless of clinical status, which is important for filling clinical trials as well as for making lifestyle choices. Ultimately, individuals will need to confirm their status with a clinically approved test, which is currently in the works, but the information from participation will let them know if they are in fact FSHD or not, or if perhaps they have another similar neuromuscular disease in the family and should pursue additional help. Overall, funding for this project will cover the cost for ~250 participants, including sending saliva collection kits to individuals and families, processing the samples, performing the testing, writing reports, and discussing the results with the participants.
The FSHD Canada Foundation acknowledges the generous support of the Stollery Foundation towards the funding of this grant.