The FSHD Society releases Voice of the Patient Report, a publication based on its June 29, 2020, externally led patient-focused drug development (EL-PFDD) meeting.
During the meeting, individuals and families living with facioscapulohumeral muscular dystrophy (FSHD) testified before representatives of the US Food and Drug Administration (FDA) and other stakeholders about how the muscle-wasting disease affects their health, and what they hope future treatments will do to improve their quality of life. According to the FDA, “This input can inform FDA’s decisions and oversight both during drug development and during our review of a marketing application.”
For its EL-PFDD meeting, called the “Voice of the Patient Forum,” the FSHD Society produced a live webcast to protect attendees from potential exposure to the COVID-19 virus. Some 400 individuals participated via Zoom, email, and phone. Their input was captured in the Voice of the Patient Report and aims provide the FDA and the biopharmaceutical industry with deep insights into how FSHD affects individuals’ health, daily lives, and well-being. The report also documents the ineffectiveness of current interventions and the urgent need for better treatments, FSHD Society notes in a media release.
Misconceptions Put to Rest
The report puts to rest some misconceptions about FSHD, the release continues. For example, FSHD is often described as a “mild” muscular dystrophy, but more than 80% of respondents reported being “moderately” to “severely” limited in daily activities involving the upper and lower extremities. Medical texts often describe FSHD as mainly affecting the upper body, and yet one-quarter of respondents said that their ability to walk was significantly impaired. Individuals with FSHD are at risk of falling and sustaining serious injuries as a result.
“I’ve fallen by myself many times, and I think one of the scariest things about falling, is I’m scared that I’m going to hit my head, and I’m scared that someone’s going to find me unconscious. And I’m scared that, one day I’ll fall and I’ll break something, and lose even more mobility.”
— a 27-year-old woman, in the report
Mental Health Effects
Many participants noted that while the disease affects skeletal muscles, it takes a heavy toll on mental health because symptoms worsen over time but in an unpredictable way.
“The disease is relentless. It takes away my daughters’ independence, and to a large extent darkens their future.”
— a father of two adult daughters with FSHD, in the report
“This disease is wicked and cruel in many ways, but losing my independence is probably the most frightening and helpless feeling I have ever had.”
— a 50-year-old man, in the report
Desired Outcomes
Short of a cure, the majority of participants indicated that treatments to slow or halt the disease progression was a highly desired outcome. They signaled their preference for slowing or stopping the loss of muscle function (62%), followed by regaining strength and/or muscle function (32%).
A common theme in the comments shared during the meeting is that people with FSHD are willing to tolerate a higher degree of uncertainty about the effectiveness of a new drug, given the dire, unmet need they currently experience.
“Having a significant treatment for FSHD would really be life changing.
“I would like to see something that would stop progression of the disease. If I were to stop progression right now, I would still be able to walk in 10 years. I would still be able to smile, to get off the couch, to raise my arms, to hold my future baby and countless other things….”
— a 26-year-old woman, in the report
“Our future and hers stay in limbo with so many unknowns – that if we had a therapy that at minimum slowed the progression… we would be able to guide and plan for what her future looks like.”
— the mother of a young girl with FSHD, in the report
[Source(s): FSHD Society, PRWeb]
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I have been living with this debilitating FSHD for almost 30 years. I hate it with a passion. If it were a person I would spit in its face and rip its arms and legs off. I make do with the crap. some days are good, and some are not so good. I will hate this thing till the day I die.