Every year, the last day of February is Rare Disease Day, where drug developers, researchers, clinicians, patients, advocates, and caregivers bring awareness to rare diseases, celebrate ongoing success and make note of where we have yet to go. For 2019, our Center for Rare Diseases hosted a World Rare Disease Day at our offices in Blue Bell, PA. This was our first large-scale externally facing event held within our Blue Bell offices and the enthusiasm and support for such an event was immense.
To show support for Global Genes and rare disease awareness, our Blue Bell colleagues contributed donations and wore denim on Rare Disease Day. PRA Cares matched donations and all proceeds were donated to each patient advocacy organization.
Our symposium included six patient advocates and two industry partners that are all well-versed in successful rare disease collaboration. Each speaker had the opportunity to talk about their organization and how their individual organizations are driving collaboration between drug developers and patients.
Scott Schliebner, Senior Vice President, Center for Rare Diseases kicked off the event by welcoming attendees and reminding everyone of the progress made in rare disease development and how much further that progress must go.
The event opened with Emily Kramer-Golinkoff, the co-founder of Emily’s Entourage. Emily charged the room with continuing to create awareness for rare diseases, especially for such “invisible” diseases as cystic fibrosis and for the many diseases sub-types that still have to no treatment available. She illuminated the incredible research being done and the involvement of cystic fibrosis patients throughout the process.
Kyle Bryant is the Founder & Director of rideAtaxia & Spokesperson for Friedreich’s Ataxia Research Alliance (FARA). Kyle, a patient with Friedreich’s Ataxia, founded rideAtaxia to support FARAs research efforts. In 2007, Kyle and his father rode their bicycles from San Diego, CA to the National Ataxia Foundation annual meeting in Memphis, TN. Kyle and his father raised over $800,000 during this initial ride and continue to raise funds and inspire other patients by hosting rides across the United States. He recently authored a book entitled Shifting into High Gear: One Man’s Grave Diagnosis and the Epic Bike Ride That Taught Him What Matters, that aims to reframe the language of disease through action and service.
Rob Long, the Executive Director of Uplifting Athletes, shared his diagnostic story through a powerful video and explained how Uplifting Athletes is working with collegiate athletes to bring awareness to rare diseases. Uplifting Athletes hosts a variety of programs to drive this awareness, such as the Young Investigator Draft, which recognizes scientific advancements in rare cancers, rare autoimmune and immunological disorders, rare blood disorders, rare genetic disorders and rare muscular and neurological disorders.
Right before lunch, Sheela Sitaraman Das, the Executive Director and Medicine Development Lead at Amicus Therapeutics, shared her thoughts from a drug development perspective. Sheela talked about the Amicus model and approach to patient partnered drug development. She also spoke about how Amicus, during the development of a failed rare disease drug, shared data with other competitors to ensure that drug development for Epidermolysis Bullosa (EB) continued.
During lunch, attendees were asked to participate in an art project, curated by Tim Kelly of Art is Good. Tim only has one rule and it is that art has no rules. It can be made by anyone, out of anything at any time. Attendees were able to review Tim’s previous art projects with rare disease patients, make their own, and collaborate on a canvas with Zebras. Why zebras? Medical school students are taught that during a diagnosis “if it clops like a horse, it’s a horse.” Rare disease advocates, however, believe that if it sounds like a horse, it could be a zebra.
Allison Moore, the Founder & CEO of the Hereditary Neuropathy Foundation, restarted the event after lunch. She talked about how her organization collects patient data through a registry and shares that information to drug developers as needed. She stressed the important to other patient advocacy groups to make a concerted effort to collect and own their data.
Michael Hund is the Executive Director of EB Research Partnership. Michael and EB Research Partnership are on a journey to find new methods of funding clinical research for rare diseases. EB Research Partnership uses a methodology call Venture Philanthropy, where operating with a business mindset, invests in biotech companies to earn a substantial return on investment. The money raised funds research in EB.
Jens Oltrogge, the Senior Director of Commercial Development in Hematology at CSL Behring was the second industry partner to offer a different perspective. He showed how there is immeasurable value when drug developers and patients converge. Jens emphasized collaboration amongst industry and patients, noting the great progress that has been made while reminding us of the challenges that still lie ahead. He also illustrated CSL Behring’s commitment to patients and the communities CSL Behring serves through service and community building outside the drug development arena.
Kristin Smedley, President for Curing Retinal Blindness Foundation, was the final patient speaker for the day. She shared a powerful video detailing the painful journey of her son being diagnosed with a rare disease. Receiving a diagnosis for a rare disease is an extremely emotional experience, and Kristin detailed her memories and emotions after her son was diagnosed and the events that led her to shift her perspective and become an advocate. All the speakers during the event returned as a panel, which Kristin moderated. Each group shared their experience with collaboration and had a call to action for each group to continue these conversations after the event ended.
Takoda Roland, PRA Clinical Research Associate (CRA), attended the event to learn more about the patient side of clinical trials. “In clinical trials we always strive to put the patient at the center of what we do,” says Roland. “As a CRA, I work towards this goal, but often have no patient interaction. Attending Rare Disease Day was an incredible reminder of the importance of the work we do. Hearing patient stories from Kyle Bryant, Emily Kramer-Golinkoff, and Rob Long re-energized my passion for clinical trials.”
The planning efforts for our 2020 Rare Disease Day event are already well underway!