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A Publication of the Facioscapulohumeral Muscular Dystrophy Society ISSUE 2 • 2016 FSH Watch CONNECTING THE COMMUNITY OF PATIENTS, FAMILIES, CLINICIANS, AND INVESTIGATORS ADVOCACY Our own American Ninja Warrior FSHD gets national exposure on NBC by CARDEN WYCKOff Atlanta, Georgia BC’s American Ninja Warrior is a Ncompetitive obstacle course race where people from all over the country apply to take on the challenge. The main purpose behind the show is also to showcase the competitors’ stories or causes. My brother Spencer—a 6’7” beast of a human being—has decided his mission is to University of Kansas Clinical Trial Center. raise awareness for FSHD, and so when American Ninja Warrior put out a call for try-outs in Atlanta, he was on it. RESEARCH Spencer applied to appear on the show back in January with a video explaining that his reason to compete was to raise FSH Society establishes Clinical Trial awareness and fund a cure for FSHD. Then, in early March during a family night Research Network for FSHD dinner, he got the surprise call notifying him that he had been selected! $121,000 launches initiative to expedite future drug trials . continued on page 18 by JUNE KINOSHITA FSH Society he FSH Society has awarded a $121,000 that are piloting the CTRN: the University Tgrant to co-principal investigators Jeffrey of Rochester, Kennedy Krieger Institute, Statland, MD, of the University of Kansas Ohio State University, and the University Medical Center, and Rabi Tawil, MD, of the of Kansas have all established centers with University of Rochester Medical Center, New expertise in FSHD and neuromuscular York, to expedite studies of therapies for clinical trials. FSHD by developing a core FSHD Clinical Underscoring the keen interest in creat- Trial Research Network (CTRN). The FSH ing a network for FSHD clinical research, Spencer and Carden Wyckoff. Society awards funds to four institutions additional funding obtained by Dr. Tawil from a private foundation will enable the WHAT’S INSIDE CTRN to be expanded to a total of seven sites. The additional sites include the page 3 page 4 page 9 page 15 University of California, Los Angeles; the FSHD tissue FSH commits over Antisense ABLE Act’s tax- University of Utah; and the University of donation registry $1.36 million to technology advantaged accounts Washington. launched research in 2016 muzzles DUX4 for the disabled . continued on page 3 LETTER FROM THE EXECUTIVE DIRECTOR Tenacity and teamwork Dear Friends, qualified scientific researcher around the world who There’s nothing more gratify- needs it. Please consider joining the registry. This is ing for me than meeting FSH the most powerful and precious gift you can leave to Board of Directors Daniel P. Perez, Society members in their future generations. President & CEO communities and seeing the Research funded by the FSH Society—fueled by William R. Lewis Sr., MD, impact our work is having your donations—has helped to establish a strong Chair Howard Chabner, Vice Chair on people’s lives. foundation for understanding the molecular basis of James A. Chin Sr., Vice This July, I had the FSHD, and today we are seeing the fruits of these pio- Chairman Ellen Hannan, Treasurer pleasure of participating in neering efforts. Dozens of companies, from biotech Amy Bekier, Secretary an FSHD Patient Day at the start-ups to pharmaceutical giants, are now develop- E. Ann Biggs-Williams June Kinoshita Carol S. Birnbaum, MD University of Kansas Medical ing therapies aimed at FSHD. Fulcrum Therapeutics Christine Ford Center (KUMC), which was organized by Jeff Stat- is but the latest to join this group (see page 8). David J. Glass, MD L. Frank Kolakowski, PhD land, MD PhD, and his team. More than 50 patients The advances we are seeing in the FSHD field today Louis M. Kunkel, PhD and their family members attended and soaked up a give us real hope. They are the direct result of so many Stuart Lai William R. Lewis III, MD series of excellent talks. These gatherings are often an patients, families, researchers, and clinicians who have Michelle H. Mackay intensely emotional experience, with many individu- worked alongside the FSH Society over the past 25 Nancy K. Payton als meeting others with FSHD for the first time in years, never giving up, and determined to succeed. George Pollock Jr. Thomas Ruekert their lives. It is a privilege to help make such mo- Indeed, whether it’s the Biviano brothers living Wendy Shack ments happen. in a tent for two years to wring concessions from the Neil Solomon, MD Just as gratifying was to hear Dr. Statland Italian government (page 16), Spencer Wyckoff tack- Scientific Advisory Board describe the very real progress being made toward ling the punishing obstacle course on American Ninja David E. Housman, PhD, Chair developing treatments, much of it with support Warrior (page 1), or Ken Colosi’s dogged pursuit of Michael R. Altherr, PhD from the FSH Society. On the day before the Patient Chase Bank bureaucrats (page 7), FSHD seems to Robert H. Brown Jr., MD DPhil Day, I had the opportunity to visit the KU Clinical engender an extraordinary degree of tenacity! Rune R. Frants, PhD Research Center, a state-of-the-art facility equipped Thank you for your constant and steadfast support, David J. Glass, MD Louis M. Kunkel, PhD to carry out clinical studies and treatment trials. and for your donations in the past. We must continue William R. Lewis Sr., MD KUMC is one of four institutions piloting the FSHD our work, and I hope you’ll give generously at this William R. Lewis III, MD Clinical Trial Research Network (CTRN), which was time to ensure that the great advances and opportuni- Katherine D. Mathews, MD George W. A. M. Padberg, launched this year with a grant from the FSH Society ties that we’re creating together will reach fruition. MD (see our cover story). It’s an honor to be on your team. Kathryn Wagner, MD PhD The CTRN is a cornerstone of the infrastructure the FSHD field needs for drug development and clin- FSH Watch ical trials. Another is the FSHD biospecimen registry, Issue 2 • 2016 also launched this year through an FSH Society grant (see page 4). By joining this registry, individuals with Washington, DC Counsel Morgan Downey FSHD can arrange for their tissues to be recovered June Kinoshita Research Programs from surgeries or after death, and delivered to any Executive Director, FSH Society Daniel Paul Perez [email protected] Executive Director June Kinoshita It is our editorial policy to report on developments regarding FSHD, but we do not endorse any of the drugs, procedures, treatments, or products discussed. [email protected] We urge you to consult with your own physician about any medical interventions. Director of Finance and Administration The FSH Watch is published by the FSH Society and distributed by mail and email to its members and supporters. All material is copyrighted and may not be repro- Lisa Schimmel duced without written permission. To be placed on the mailing list, provide feedback, or propose an article for future issues of the FSH Watch, please write to: [email protected] June Kinoshita Executive Director Development Officer Beth Johnston FSH Society [email protected] 450 Bedford street Lexington, MA 02420 usA Executive Assistant [email protected] Robyn O’Leary [email protected] Look for us on the Internet at http://www.fshsociety.org. FSH Society Editors: June Kinoshita, Daniel Paul Perez 450 Bedford Street Copy Editor: Elaine Alibrandi Lexington, MA 02420 USA (781) 301-6060 Editorial Assistance: Robyn O’Leary, Howard Chabner [email protected] Graphic Design: Leslie Anne Feagley Printing and Mailing: ShelDon www.fshsociety.org 2 • FSH Watch • ISSUE 2 • 2016 FsH socIety estABLIsHes cLInIcAL trIAL reseArcH network For FsHD . from page 1 The CTRN will comprise academic at the University of Rochester Medical research centers working closely with the Center; FSH Society to collaboratively develop, test, n John Kissel, MD, professor of neurol- and validate clinical outcome measures and ogy and chairman of the Department of biomarkers. A prospective study of 150 Neurology at the Ohio State University patients followed over 18 months will be Medical Center; needed to validate the outcome measures of n Kathryn Wagner, MD PhD, director of the Clinical Trial Research Network. the Center for Genetic Muscle Disorders “This Clinical Trial Research Network at the Kennedy Krieger Institute and is a milestone for the FSHD and muscular associate professor of neurology and neu- dystrophy community,” said Daniel Perez, roscience at the Johns Hopkins School of co-founder, president, and CEO of the FSH Medicine; Society. “The network will significantly n Jeffrey Statland, MD, assistant profes- increase the likelihood that promising sor of neurology at University of Kansas therapeutic interventions in FSHD can be Kathryn Wagner, MD, at the Kennedy Krieger Institute. Medical Center in Kansas City; translated into clinical trials for patients. We n Nicholas Johnson, MD, assistant profes- are also thrilled that the CTRN will ensure Kansas Medical Center. “This information sor of neurology, pediatrics, and pathol- the patient voice is heard and addressed is crucial in clinical trial design, as it allows ogy at the University of Utah; throughout the drug development process the estimation of the study sample size and n Perry Shieh, MD PhD, associate profes- via its Patient Engagement Circles.” the power to detect a predicted therapeutic sor of neurology and director of the Research conducted by the CTRN effect size.” neuromuscular fellowship program at the includes a longitudinal natural history The Clinical Trial Research Network University of California, Los Angeles; study, which “will help to establish the members include: n Leo Wang, MD PhD, assistant professor variability and rate of progression of FSHD n Rabi Tawil, MD, professor of neurology, in the Department of Neurology at the in patients,” said Jeffrey Statland, assistant pathology, and lab medicine, and head University of Washington Medical Center professor of neurology at University of of the Fields Center for FSHD Research in New York.

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