Yesterday, the FSH Society convened a landmark meeting at the Tommy Douglas Conference Center, a stone’s throw from the headquarters of the Food and Drug Administration (FDA). Several FDA regulators attended in addition to researchers from seven biopharmaceutical companies, academic scientists who are leading the effort to prepare the field for clinical trials, and representatives of patient advocacy organizations including the MDA, Friends of FSH, and Chris Carrino Foundation. The workshop was organized by John Porter, PhD, and funded by a generous grant from the Geraldi Norton Foundation.
The purpose of the workshop was to introduce the FDA to facioscapulohumeral muscular dystrophy–the impact of the disease on individuals, why scientists think FSHD is treatable, and the progress that has been made toward clinical trials. The workshop sought advice from the FDA on how to develop methods to measure treatment effects to meet the standards for FDA approval. The FSH Society will use the discussion to define the scope of its Therapeutic Accelerator Project, which will be supported through a private-public partnership of stakeholder companies and philanthropy.
Opening the workshop was Lexi Pappas, who shared her personal story of living with FSHD as well as the dreams of so many others with FSHD. Her eloquent, moving testimonial reminded us why we were gathered there. Watch:
That is a really smart step to take with the FDA. Is there anything you can share about what the FDA would see as convincing evidence of a successful FSHD treatment particularly a treatment that aims to treat the disease at the genetic level? Or… is that information something the FDA will be returning in the future?
I’m so proud of my daughter for going to DC to be a part of this workshop! I wish I could have been there with her, but my FSHD keeps me back. I hope and pray that a drug to stop progression or even a cure will be brought to market quickly, because for me, time is of the essence. My father -Lexi’s grandfather – would have been so incredibly proud of Lexi and her accomplishments as a patient advocate, if he were still alive to see it. Thank you June and Mark for asking Lexi to partake in this monumental day.
Hi, my name is Sal Sofia. I live in FL. I was diagnosed with FSH MD when I was 18. I’m now 55. To say that I’ve gone thru multiple changes over the years would be a gigantic understatement. I was very impressed with Lexi and thankful, as more needs to be said and heard from our community. My entire life, even as far back as before my teen years I was affected but no one knew what was going on. I am still up and now just barely walking with use of cane, but ready to fall every second. I am verrrry hopeful that some form of treatment my finally be able to help. I have children…even a new 4 year old boy that I’m verrry worried about. How can I stay in touch? Thanks Sal Sofia salsofia@hotmail.com
Hi Sal, we have a nice support group in the Miami area (did you receive an email our postcard from us about the Miami Family day that we had last month?), and also one in the Hobe Sound/Stuart area. You might enjoy meeting some folks who can understand what you are going through and offer advice and tips. If you like, we can connect you to someone you can speak with.