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Facioscapulohumeral muscular dystrophy community speaks to the FDA

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The patient and caregiver testimonies gathered by the FSHD Society will be published in a “Voice of the Patient Report” that will be submitted to the FDA, for inclusion in the framework used to evaluate future FSHD therapies.


LEXINGTON, Mass. (PRWEB)

The FSHD Society is holding a landmark meeting today in which individuals and families living with facioscapulohumeral muscular dystrophy (FSHD) will tell representatives from the U.S. Food and Drug Administration (FDA) about how the muscle-wasting disease affects their health, and what they hope future treatments will do to improve their quality of life. One of the most common types of muscular dystrophy, FSHD affects an estimated 1 in 8,300 people in the general population. Caused by a genetic aberration on chromosome 4, FSHD results in a life-long, progressive loss of muscle strength, with around 20 to 25 percent of affected individuals needing a wheelchair by age 50. There is currently no treatment to slow or stop the disease.

Today’s meeting, called the “Voice of the Patient Forum,” is an externally led Patient-Focused Drug Development (EL-PFDD) meeting recognized by the FDA. A key component of the Society’s Therapeutic Accelerator initiative, the meeting had originally been scheduled for April 21, 2020, in College Park, Maryland. With the outbreak of COVID-19 this spring, the meeting had to be rescheduled and reformatted as a live webcast to protect participants from potential exposure to the virus. Nearly 500 people have registered for the virtual event. The meeting is co-sponsored by Fulcrum Therapeutics, Muscular Dystrophy Association, and Optum. Friends of FSH Research is participating as well.

The PFDD meetings, started in 2012 by the FDA, are used to obtain patient perspectives on specific diseases and their treatments. The success of these meetings led FDA to set up a mechanism for patient groups to organize “externally led” PFDD meetings.

According to the FDA, “PFDD meetings give FDA and other key stakeholders, including medical product developers, health care providers, federal partners, an important opportunity to hear directly from patients, their families, caregivers, and patient advocates about the symptoms that matter most to them, the impact the disease has on patients’ daily lives, and patients’ experiences with currently available treatments. This input can inform FDA’s decisions and oversight both during drug development and during our review of a marketing application.”

The FSHD Society’s meeting will provide individuals with FSHD, caregivers, and other stakeholders an opportunity to share their experiences and preferences so that the FDA and the biopharmaceutical industry can:


  • understand the FSHD patient journey, and recognize patient preferences and risk tolerance so these may be translated into improved clinical trial designs, selection criteria, and development of outcome measures relevant to FSHD drug development;

  • demonstrate the complexity and heterogeneity of FSHD, with the end goal of development programs and trial designs that will reflect these aspects of the disease;

  • create a practical, scientifically rigorous framework that incorporates patient preferences and patient-reported outcomes into FSHD clinical research to ensure that trials are measuring not only statistical success, but also demonstrating meaningful benefit to individuals with FSHD;

  • better understand patient and caregiver perceptions about the treatments they are currently using, which treatments are most beneficial, and which ones may have side effects;

  • encourage identification and use of approaches and best practices to facilitate patient enrollment and minimize the burden of patient participation in clinical trials; and

  • ensure that people with FSHD understand the value of their participation in clinical trials, and how their input impacts FDA and biopharmaceutical industry decision-making and outcomes at all levels to both improve their own health-related quality of life as well as that of others with FSHD, now and in the future.

Prior to the meeting, the FSHD Society distributed online surveys related to the disease burden and unmet medical need of FSHD and received nearly 2,500 responses. “Data from these surveys was used to plan our Voice of the Patient Forum and will also be included in our report to the FDA,” said June Kinoshita, Director of Research and Patient Engagement at the FSHD Society.

Individuals and family members living with FSHD will be able to submit written testimonies if they are unable to participate in today’s live webcast. Submissions will be accepted until July 31 and can be sent to comments@fshdsociety.org, said Kinoshita.

The patient and caregiver testimonies gathered by the FSHD Society will be published in a “Voice of the Patient Report” that will be submitted to the FDA, for inclusion in the framework used to evaluate future FSHD therapies.

About the FSHD Society

The FSHD Society is the world’s largest research-focused patient organization for facioscapulohumeral muscular dystrophy (FSHD), one of the most prevalent forms of muscular dystrophy. The Society has catalyzed major advancements and is accelerating the development of treatments and a cure to end the pain, disability, and suffering endured by one million people worldwide who live with FSHD. The FSHD Society has transformed the landscape for FSHD research and is committed to making sure that no one faces this disease alone. The Society offers a community of support, news, and information through its website at https://www.fshdsociety.org.

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