$3.4 million to speed us along our journey (Part 1)

How projects we have funded will help us get more and better treatments to our community

by June Kinoshita, FSHD Society

Many of you have heard us describe the FSHD Society as a “research-focused patient advocacy organization.” While the public may see more of our patient advocacy face, research is equally central to our identity. Over the past two years, the FSHD Society has invested nearly $3.4 million—dollars you have donated and raised—in basic research and our Therapeutic Accelerator initiatives.

A lion’s share, nearly $2.5 million, has funded grants and projects by academic and industry researchers. Here’s how these funds are being spent, and why:

New approaches to treating FSHD

Much of the current effort to treat FSHD is aimed at reducing the expression of the DUX4 gene. DUX4 is normally silent, but in FSHD the gene “wakes up” and causes muscle damage. But DUX4 is a difficult target to hit, so it’s important to seek other approaches that might also help reduce or reverse the disease process. We want many shots on goal. That is why we have funded 11 projects in the past two years that explore a diverse set of ideas—from “upstream” factors that regulate DUX4 to “downstream” biological processes of muscles damage–which could lead to new therapies. You can read more about them here.

Improving the genetic diagnosis of FSHD

One of the Society’s key projects this past year was TestFSHD. This program provided free genetic testing to 150 individuals who have FSHD symptoms but had not had a genetic test. We developed this program because barriers to genetic testing threaten to slow down recruitment of volunteers for FSHD clinical trials. Most FSHD trials will be restricted to people whose FSHD is confirmed by a genetic test, yet around half of U.S. patients have not had testing. What’s more, FSHD genetic testing often takes six months or longer to be completed. If individuals delay getting tested until a trial has begun to recruit, they may not get results back in time to be included in the trial.

Getting genetic testing is complicated, so the Society designed a process to address common chokepoints, including a consultation with a genetic counselor to make sure every participant is aware of the implications of having genetic testing in their medical records. Sponsor funding for the free testing has been spent, but anyone in the U.S. who wishes to get tested can still use TestFSHD to make the process smoother, with the cost covered by health insurance or paid for out of pocket.

While we have made giant leaps in the ability to diagnose FSHD through genetic tests, we continue to need to deepen our basic understanding of FSHD genetics. It’s not unusual to meet people with classic symptoms who still test negative on current genetic tests. It’s also not possible to predict from a genetic test how individuals’ symptoms will progress, nor how severely they will be affected. Having a lower number of D4Z4 repeat units is associated with more rapid and severe progression, but not always. And the reverse—more D4Z4 repeats correlating with milder disease—is not always the case either.

A more detailed understanding of how FSHD-related changes in the genome correlate with disease progression should improve the ability of doctors to make the diagnosis, predict the future course of symptoms, and recommend appropriate treatments.

Want to learn more about the work we are doing with your involvement and support? Click below.