International Conference Brings Together Key Stakeholders to Advance Clinical Trial Readiness for FSHD

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FSH Society funds efforts to develop biomarkers and clinical outcome measures at Rochester Workshop

Daniel Paul Perez

Daniel Paul Perez

The FSH Society, the Massachusetts-based charity that has transformed the science of the little-known and incurable disease, facioscapulohumeral muscular dystrophy (FSHD), announced that it is co-funding the second FSHD Trial Preparedness Workshop. The Workshop, being held from May 29-30, 2015, at the University of Rochester Medical Center in Rochester, New York, will convene more than 50 stakeholders from around the world, including representatives from industry, the Food and Drug Administration, National Institutes of Health, and patient advocacy groups, including the FSH Society.

“For this year’s Workshop, the first objective is to reassess where we are in the process of developing relevant clinical outcome measures, biomarkers and surrogate outcome measures for future FSHD trials,” said workshop organizer Rabi Tawil, MD, of the University of Rochester. “The second goal is to reach agreement on the most promising outcome measures to be pursued and identify gaps that remain. Finally, we hope to foster collaborations among investigators at different institutions to help accelerate the pace of research to fill those gaps.”

Affecting an estimated 870,000 people worldwide, FSHD is one of the most common muscular dystrophies. The genetic disorder presents a lifelong progressive loss of skeletal muscles, typically attacking the muscles of the face (facio), shoulder blades (scapula), arms (humerus), trunk and legs, although it can progress to affect any skeletal muscle. Approximately one-quarter to one-third of patients end up in wheelchairs.

Over the past three years, a scientific consensus has emerged around the central genetic mechanism of FSHD. While many details about the disease process remain to be solved, several labs in both academia and industry have begun to search for potential therapies. In addition, financial incentives to encourage drug development for orphan diseases, combined with advances in tools to track disease progression, have wakened industry interest in FSHD.

Anticipating rapid progress in FSHD drug development, two years ago Tawil together with Stephen Tapscott of the Fred Hutchinson Cancer Research Center in Seattle, Washington, and Silvere van der Maarel of the University of Leiden in the Netherlands, convened the first FSHD trial preparedness workshop, held in Leiden. That meeting established working groups to develop recommendations for clinical outcome measures, imaging biomarkers, and molecular biomarkers (molecules that can be detected in tissue and blood). In addition, the groups developed common protocols to prospectively evaluate and validate the various outcome measures and biomarkers across multiple sites.

The Society and two co-funders, FSHD Stichting of the Netherlands and FSHD Global Research Foundation from Australia, each donated $25,000 to cover the costs of the meeting.

“The FSH Society is proud to help fund and advise this important workshop,” said Daniel Paul Perez, FSH Society CEO and President. “Meetings like this will help all future developers of FSHD treatments design good clinical trials—and help avoid costly failures. We are investing in rigorous science, collaboration and open discussion involving all stakeholders. That’s the way to move us forward towards treatments and a cure.”

To learn more about FSH muscular dystrophy, visit the FSH Society’s website at

About the FSH Society

The FSH Society, founded in 1991 by two FSHD patients, is a world leader in combating muscular dystrophy. The non-profit has provided millions of dollars in seed grants to pioneering research worldwide, creating an international collaborative network of patients and researchers. The FSH Society seeks to serve as a source of information and support for all patients and families with FSHD; act as a driving force in the development of research directed towards treatments and ultimately a cure; and bring support to patients and research for FSHD through effective engagement of governmental and private sector organizations and entities. For six consecutive years, the Society has received the Charity Navigator’s four-star rating, the highest distinction held by less than four percent of non-profit organizations in the country. The FSH Society offers a community of support, news and information for FSHD patients and families through its website at For more information about FSHD, please contact the Society at 781-301-6649.

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