Springboards to the future

Everything we do propels us faster toward treatments and a cure

We often speak of “filling potholes” and “overcoming obstacles” toward treatments and cures, but what the FSHD Society has done is much more dynamic. We are not just bridging gaps but are building springboards that actually propel us faster down the road to treatments. What may seem like random, disconnected projects to a casual observer are, in fact, components of a strategic path to speed up the delivery of treatments and improve the quality of life for everyone living with FSHD.

Consider our first two decades of basic research to uncover the genetic cause of FSHD. It felt painstaking and interminable at the time, but since the breakthrough announcement of the genetic mechanism in 2010, the field has catapulted forward. In short order, for example, the Society funded such scientists as Kathryn Wagner, Peter and Takako Jones, Michael Kyba, Scott Harper, and Robert Bloch, to develop a variety of mouse models which are now used widely to test candidate drugs.

The Society was also a pioneer in funding research on tools to measure how FSHD affects individuals and collaborating on surveys that were used to design clinical trials. Our 2020 Voice of the Patient Report, in which more than 600 of you provided testimonials to the Food and Drug Administration, is a guiding document for all companies designing trials for FSDH therapies.

Breaking new ground

The Society is collaborating with researchers to investigate aspects of FSHD that go beyond muscle weakness, such as sleep disorders, bowel and urinary issues, pulmonary factors, shoulder weakness, and mental health. These efforts could lead to new patient-driven clinical outcomes that could be considered in future clinical trials.

Back in 2018, the Society persuaded the World Health Organization to add a unique medical code for FSHD in the International Classification of Diseases 10th Revision (ICD-10). The code makes it possible to gain more accurate insights into the health impacts and costs of FSHD through the analysis of large medical datasets. This seemingly esoteric effort bore fruit this year when the Society as well as several pharmaceutical companies undertook health economic studies using the code to pull de-identified data on FSHD patients from large datasets of U.S. health insurance and medical records. In addition, we carried out the True Cost of FSHD survey, which more than 300 households completed. All of these data will be analyzed in our study on the socioeconomic cost of having FSHD, which will inform discussions about fair pricing for—and patients’ access to—future FSHD therapies.

The Society’s TestFSHD program was also a springboard to speed up clinical trials. This program provided 150 people in the US with free genetic testing, with funding from a group of companies. The testing was offered to people who were the right age and had the symptoms that made them eligible for clinical trials. They just had never had their FSHD confirmed by a genetic test. Because it can take 8 weeks or longer to complete a genetic test, the Society realized that it was important to be proactive about getting people tested. If people waited until a clinical trial was actively recruiting, they might not get the results back in time to join the trial. Or the trial itself might be significantly delayed if it had to wait for volunteers to complete the testing. To avoid such debacles, the Society developed the TestFSHD program to get ahead of the problem.

We are also leaning into a program on pediatric FSHD, for individuals who have early-onset symptoms before the age of 10 as well as the more typical patients who are diagnosed as teenagers. We are urging families to enroll their children in the MOVE natural history study, to ensure there will be solid data on how FSHD progresses in kids—a base of knowledge necessary for clinical trials and access to treatments in this age group. We are engaging a group of researchers, clinicians, and parents to identify gaps in trial readiness for pediatric patients and come up with solutions.

It’s amazing that in a few years, we have gone from wondering if there will ever be a treatment to making sure no one is left behind when those treatments arrive.

We are deeply grateful to everyone who supports and participates in our initiatives. Each step you are taking with us on this journey helps propel us faster toward our destination.