The challenges of the new era

What can you do to help?

When we say that we are embarking on a new era in clinical trials, what do we mean? After all, we have seen previous FSHD trials, including those by Wyeth, aTyr, Acceleron, and Fulcrum’s ReDUX4. What makes the current era different is that, for the first time, we have multiple trials running in parallel, including one in Phase 3, which is the furthest stage of development any therapeutic trial in FSHD has ever gotten!

Amongst the ongoing trials, REACH (Fulcrum’s Phase 3 trial) will be recruiting 230 individuals with FSHD this year, while the MOVE and MOVE+ natural history studies for FSHD are seeking 450 volunteers. In addition to these ongoing studies, both Roche Pharmaceuticals and Avidity Biosciences are planning to launch their own Phase 1/2 studies in 2023, each requiring about 50 participants.

Finding more than 700 people to volunteer may not seem like a tall order until you consider this sobering statistic: Across all 20+ Clinical Trial Research Network (CTRN) sites in the US, Canada, UK, and Europe, there are roughly 2,500 patients. But only about 10 percent – or 250 – of these patients might meet the inclusion criteria for a clinical trial. As a community, we will have to work hard to fill the need for just this year. This is our immediate challenge.

If a clinical trial fails to show efficacy, that’s a huge disappointment, but it can provide valuable insights about whether the selected outcomes were sensitive or whether the trial duration was sufficient. This type of information can further encourage other companies to improve their trial designs to increase their chances of showing an effective outcome.

But if a trial cannot be completed at all because it was unable to recruit enough volunteers, that is the worst kind of failure, because it discourages other companies from taking the risk to develop a drug.

This is the crux of the problem – not having enough engaged individuals in the FSHD community to quickly fill up the clinical trials that are coming. If we do not solve it, the longer-term consequences could be dire.

What can you do?

• See your neurologist. Ask your doctor to look up FSHD trials on clinicaltrials.gov and discuss whether you are a candidate for a clinical trial. It’s also a good idea to see your doctor to stay proactive about your health.
• Get seen at a Clinical Trial Research Network site. You’ll get high-quality care and meet the researchers who are running trials. They can guide you if you want to enroll in a trial or other studies.
• Join a study! There will be three clinical trials this year. Learn about them and ask yourself if you’d like to be involved. If a trial is not right for you, sign up for the MOVE or MOVE+ studies, which are vital for future drug development efforts. See our listings.
• Talk to others with FSHD. Most people with FSHD are on the sidelines. Talk to them about why it’s so important to participate in research.
• Read our emails. This is the main way we alert you about new trials. If you aren’t getting our emails, be sure to sign up to our contact registry.
• Visit the FSHD Society website for updates. Our blog will keep you up-to-date on the latest news.

Why will it make a difference?

You will help grow the size of our active community. The FSHD Society reaches approximately 5,000 of you who have FSHD. Of this number, about 700 regularly engage when we invite you to participate in studies and meetings. You are the lifeblood of the community!

But another 4,300 may skim issues of the FSHD Advocate or only briefly scan our emails. We understand that people have a lot of other things going on in their lives. They don’t want everything to be about FSHD.

But a lot is happening now that can impact your future. In a rare condition like FSHD, you cannot assume someone else will step up to the plate.

Your participation in research may enable more people to be included in clinical trials. It seems like a paradox to worry about filling clinical trials when so many who wish to volunteer are turned away. Why is this?

Clinical trials aim to prove whether patients’ strength or function stabilizes or improves when they are on the drug, so the trial must eliminate factors that can make the data difficult to interpret. These factors include patients’ age, ability to perform the required tests, ability to make trips to the trial site, which specific muscles are affected, and so on. By the time potential volunteers are screened for a trial, perhaps 9 out of 10 will not meet the criteria.

Can anything be done to broaden the criteria, for example, to include younger or older patients, or wheelchair users? Possibly. If solid data existed on the natural progression of FSHD in large numbers of older adults, children, and non-ambulatory individuals, then designing trials that include these people should be possible.

Unfortunately, there aren’t enough data, which is why the MOVE and MOVE+ natural history studies are open to all comers. But to date, very few older people, children, and non-ambulatory individuals have enrolled. Unless many more underrepresented patients enroll in natural history studies, future clinical trials will likely continue to exclude these groups.

You can help find the “missing” people with FSHD. There are an estimated 50,000 to 100,000 people with FSHD in the US, EU, and UK. Advocacy groups and clinicians are connected with only a fraction of them.

We can only speculate about where the rest of them are. Perhaps half of the people who have FSHD have not been diagnosed or have been misdiagnosed with another condition. Others have received a diagnosis and were told “there’s nothing to be done,” so they never returned to the doctor. They went on living as best they could. They never connected with advocacy groups or heard about progress toward better treatments.

Some of these may be people in your own family. Or they may be your friends through social media groups. They may have symptoms but no diagnosis. Or be newly diagnosed. Or were diagnosed decades ago but never engaged with the FSHD community. Talk to them and let them know how important their participation would be to advancing treatments for FSHD. You are the most powerful advocate when it comes to connecting our community with the larger universe of people with FSHD.