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FARAFARA Cure FA

Family Weekend in Philly

Family Weekend Collage 2It all started on the morning of October 13th when the annual Ambassador Training begins. After a year of online meetings, we get to meet in person to share, learn, and grow together. We share what we've done, where we've been, and stories of how we've impacted our FA community. This year's speakers were Susan Walther (FARA's Director of Patient Engagement), Jen Farmer (FARA Executive Director), Brigid Brennan (FARA's Advocacy Director), and Kyle Bryant (Founder of the FARA Ambassador Program and rideATAXIA director). Through these speakers, we are updated on research advancements, ways we can advocate for ourselves and others affected by FA, and the biology impacting research approaches. Beyond the education, we receive it is empowering to be surrounded by so many individuals who all have a part interacting with the community to spread FARA's mission. This training day prepares us to speak with families throughout the weekend and year ahead.

Most families arrive Saturday night in preparation for rideATAXIA Philadelphia on Sunday. This year was cold and wet, but despite the weather, the ride raised over $340,000 for the Friedreich's Ataxia Research Alliance!

Once everyone warmed up and refreshed they headed to the Young Investigators Poster Presentation and Meet and Greet. This is an informal gathering to mingle and meet others affected by FA. Researchers have been invited to set up poster displays highlighting their research into treatment approaches and are on hand to further explain their models. It is amazing to speak one on one with leading researchers who all have the common goal of treating and curing FA.

The 11th Annual CHOP FA Symposium was held on Monday, which brings in a crowd of about 200 people. Breakfast is offered at 7:30am and the Symposium begins promptly at 8:00am. Jen Farmer started the morning with updates on the FA Treatment Pipeline and clinical trials. Currently, Reata Pharmaceuticals is in Phase 2 still enrolling with their drug (RTA-408) and hoping to be fully enrolled by the end of 2018. Likewise, Takeda Pharmaceuticals has fully enrolled their Phase 1 drug trial (TAK-831) and all participants will complete this phase before the end of 2018. Next up was Dr. Lynch who has been researching statins, Steriods, and Stem Cells. If you can follow his fast-pace he has found some improvement on a small study of patients given methyl-prednisone, especially in younger patients. He remarked on improvement with a timed walk which suggests that under doctor supervision this could be a treatment approach. Dr. Robert Wilson who has been studying FA since FARA organized spoke about his approach to identifying an existing drug to move into a clinical phase as a treatment approach. Following a short break, was Dr. David Jacoby from BioMarin Pharmaceuticals who explained that his company has a drug (BMN-290) that has shown effective in the laboratory to increase frataxin in cells and is on track to move into a clinical trial in the first half of 2019. Jen Farmer took the stage again to represent Chondrial Therapeutics, they are developing the drug CTI-1601 that would be an injectable replacement for frataxin and are hopeful to be into clinical trial phase after applying for an IND with the FDA in 2019. At this point, questions were addressed from the audience and a catered lunch was provided.

Family Weekend CollageAfter lunch, Dr. Sanjay Bidichandani presented on his findings of how methylation altered the performance of HDAC inhibitors in his Phase 1 trial, he will continue to research and look for ways to increase drug response in all FA patients. Dr. Aseem Ansari shared his early research that has found a way to synthetically turn on silenced Frataxin genes, he will move into mouse models and hopefully see the same results that were found in blood samples from FA patients. Another promising approach was from Dr. Manuela Corti who has developed an AAV-mediated gene therapy approach which will move into clinical trial pending FDA approval in 2019. Next up were Dr. Kim Lin who discussed Cardiac implications of FA and Dr. Shana McCormick who discussed Metabolic dysfunction in FA patients. While most of the science behind treatment approaches can be hard to comprehend, the biggest motivation is to see changes in the Treatment Pipeline. Researchers are working tirelessly to better understand how FA affects the cellular changes to provide an opportunity for a successful treatment. Since FA affects all of the patients a little differently, it is important for researchers to find the common links to provide a treatment to the entire population affected by FA.

Last on the Symposium agenda was a patient panel discussing Adulting with FA. Ashlea Smith, Alex Fielding, and Liam Dougherty spoke about life decisions they've made and how FA affected some of those decisions. While living with FA is daunting the central message was that FA cannot control your life and there are ways to work around the challenges of living with a disability.

We leave this weekend in Philadelphia with so much to be thankful for. Our new friendships that help us not feel alone. The researchers who give new hope and insights that our patience for a treatment and cure will come, eventually. The fundraising efforts within our community is what really drives the research forward and motivates us to do our part. And the FARA team always offering smiles, hugs, and words of wisdom truly bring our FAmily together!

 


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