TIME = LIVES
Perhaps, as you look out your window, you feel as though the plans and momentum we created last year and at the beginning of 2020 have been put on hold, delayed, or stymied. Let me assure you: We have not stopped, stalled, or stumbled. Because of your continued commitment, we have moved forward in all the areas mentioned below and made expansive gains in engaging the global FSHD community – speaking with one voice, one million strong.
Despite events beyond our control, FSHD does not stop its devastating progression – and neither can we. And although we needed to find new ways of moving forward, to “drift nor lie at anchor” were not options. While circumstances have changed, our timelines have not, because TIME = LIVES. Every day of delay in carrying out our strategy is a day that symptoms worsen, and our loved ones suffer.
BECAUSE TIME = LIVES, our families now have access to a comprehensive, cost-effective genetic test through PerkinElmer. Using state-of-the-art technology, and by partnering with FSHD researchers, PerkinElmer has now made its test available for $700 rather than $3,000 (the average cost of the previous test), and is assisting our families with physician referrals, genetic counseling, and insurance submissions. Along with PerkinElmer Genomics, the FSHD Society is working with several other testing facilities and companies to continue to broaden access to testing while accelerating therapeutic development.
BECAUSE TIME = LIVES, we hosted a virtual workshop with more than 40 researchers, pharmaceutical teams, and contract research organizations on the topic of blood biomarkers and initiated an FSHD Society-funded pilot study to investigate a promising target. We are currently receiving cost estimates for a “milestone-gated” study into the other targets discussed during the workshop and to seek a dependable, blood-based process to identify DUX4 activity – or lack thereof with a therapy – throughout the body.
BECAUSE TIME = LIVES, we have been collaborating with several of the world’s largest patient registries to synergize and/or analyze data sets for a robust natural history study. Additionally, the FSHD Society has funded an artificial intelligence/machine learning process which, if proven viable, could be linked with other registry platforms throughout the world to synthesize data. And recently, the Critical Path Institute, an FDA-funded organization, has offered to standardize data across registry platforms for enhanced studies.
BECAUSE TIME = LIVES, we hosted only the third all-virtual FDA “Voice of the Patient” Forum, with more than 400 patients and caregivers, along with many pharmaceutical companies and FDA members, which amplified our families’ voices regarding disease burden and acceptable therapeutic thresholds. The “Voice of the Patient Report,” which will be used by the FDA and pharma companies in therapy development and approval, has been finalized and submitted. The significance of this event and report cannot be overstated and could not have occurred without the participation and investment from you
and the FSHD community.
We have now arrived at a critical juncture. The work we have begun and the progress we have achieved require that we commit additional funding and staff time to key projects and research initiatives. Between now and the end of 2020, we need to raise the financial resources necessary to advance these projects and ensure their completion.
Your donations, your support, your commitment to the FSHD Society and to our collective mission ensures that no one need ever face this disease alone.
“As a patient I am truly grateful to all of you for making this event happen- giving us the forum for the FDA, Pharma, and clinicians to hear the resounding voice of the patients for this rare disease heard.” – Stuart Lai, New York City
“I know this disease really well after taking care of patients for 20 years. However, I was informed and incredibly moved by the panel of the Voice of the Patient Forum.” – Kathryn Wagner, MD PhD, Global Head of Neuromuscular Disorders, Roche Pharmaceuticals