World Rare Disease Day (WRDD) is an important time to raise awareness for the 7,000+ known rare diseases and the millions of people whose daily lives are impacted by rare disease.
To highlight this, PRA’s Center for Rare Diseases hosted a Rare Disease Day event in collaboration with the University of Pennsylvania Orphan Disease Center on February 28th in our office in Blue Bell. This year’s theme was “Re-Framing Rare;” the event brought together rare disease patients, caregivers, advocates, thought leaders, and other rare disease stakeholders to explore new approaches or “frames” to rare disease research, clinical trials, advocacy engagement, and regulatory strategies. Participants learned about innovative healthcare options for patients from speaking sessions and partook in guided discussion-based roundtables surrounding rare disease research and impacts of the patient voice.
Scott Schliebner, Senior Vice President of PRA’s Center for Rare Diseases, kicked off the event by laying out the mission and vision for the Center. In his remarks, he acknowledged the daily challenges faced by the rare community and how our industry can raise awareness of those challenges.
The first presentation of the day was led by Dr. Eric Marsh on "Reframing Patient Standard of Care to Include Clinical Trials.". Dr. Marsh is an attending pediatric neurologist in the Division of Neurology at Children’s Hospital of Philadelphia (CHOP), specializing in diagnosing and treating children with developmental epilepsies, epilepsy, infantile spasm, and malformations of cortical development. To illustrate the challenges in incorporating clinical trials into traditional care, he shared research from a study done by Center Watch in Washington, DC that showed 75% of patients weren't aware clinical trials could be a care option. Dr. Marsh explained that when raising awareness of clinical trials, patients can find meaningful care, treatment options, and insights into their health data.
Brett Brackett, General Manager and Director of Sports Impact at Uplifting Athletes, spoke at the event about his involvement in the rare disease community. In 2006, when he was a Wide Receiver at Penn State University, Brett's teammate's dad was diagnosed with a rare disease. This inspired Brett to serve the rare disease community by volunteering with the Penn State Chapter of Uplifting Athletes. In 2017, Brett joined Uplifting Athletes' staff full-time as a Chapter Manager. Uplifting Athletes has funded $300,000 in rare disease research grants since 2018. On March 7, Uplifting Athletes will host its third annual young investigator draft at Lincoln Financial Field.
In the afternoon, attendees participated in roundtable discussions with the goal of gathering different insights and perspectives on approaches to rare disease research. During one of the roundtables, participants discussed how to conduct better studies with better outcomes, with the goal of obtaining daily patient data. One participant mentioned that patients desire to be "partners, not guinea pigs,” an important consideration for how clinical development approaches patient interaction.
In another round table, participants talked about decentralized research and platforms for the rare disease community to run natural history studies. Also discussed was the importance of hybrid models with wearables, since data from wearables isn't the primary endpoint. In the wearable industry, many challenges with technology still exist because there are so many factors to consider – including model and type of phone, data, and wearable device.
The final two presentations of the day started with Pamela Gavin, Chief Strategy Officer for the National Organization for Rare Disorders (NORD). She emphasized to her audience the importance of empowering patients to sign up for patient advocacy organizations. Together, patients and advocacy organizations can unite to reframe drug development by putting the patient voices in trial design, highlighting that both of these groups bring to the industry first-hand experience and preferences, as well as a strong understanding of risks in trial design.
To close the day, James E. Valentine, Associate Attorney at Hyman, Phelps & McNamara, P.C. spoke about reframing how regulators use the patient voice in their decision-making. In his job, James assists medical product industry and patient advocacy organization clients in a wide range of regulatory matters, including new drug and biologic development and approval issues. In his talk, James highlighted the need to evolve the role of the patient voice, acknowledging that constant reframing and addition of policies for patient engagement has grown more in the last decade than in previous years. Patient voice and input can be product-specific and context-setting when it comes to their contribution to the FDA.
Rare Disease Day is a day to come together and have discussions to advance the future of rare disease research. Thank you to everyone who attended for sharing your insights and knowledge with us. We hope you will join us for Rare Disease Day 2021!
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