Today kicks off Rare Disease Week, an annual opportunity to celebrate the incredible progress that has been made to treat rare diseases and reflect on the need for continued research and development (R&D) to address unmet medical needs. While categorized as rare, 30 million Americans, or 10% of the population, are still impacted by one of 7,000 rare diseases.
Conquering rare diseases presents a unique scientific challenge for researchers and requires collaboration among stakeholders across the public and private sectors. Although advances in pediatric research have improved the lives of infants, children, adolescents and society at large, tremendous unmet needs remain. Currently just 5% of rare diseases, including those that impact children, have an available treatment option. America’s biopharmaceutical companies have more than 560 medicines in development for rare diseases and more that 770 medicines have been approved to treat rare diseases over the past 35 years. Last year, America’s biopharmaceutical companies made significant progress toward this commitment with 21 novel medicines approved to treat rare diseases.
Underpinning this marked progress are key policies that have helped accelerate the development and availability of new medicines.
The Orphan Drug Act (ODA), passed in 1983, has been a driving force for rare disease R&D. Since the bill’s enactment, the U.S. Food and Drug Administration (FDA) has approved nearly 800 orphan therapies. Comparatively, in the years prior to the legislation, only 10 medicines with orphan indications had been granted approval.
While substantial progress has been made the vast majority of rare diseases do not have an approved treatment which is why it’s critically important we protect incentives for innovation.
In celebration of Rare Disease Day, I will join the National Institutes of Health (NIH) to participate in a panel and speak about the challenges that rare disease patients face when it comes to diagnosis. I look forward to exploring the progress of rare disease diagnostics alongside industry experts from hospital systems, medical schools and non-profits on a panel discussion.
Richard Moscicki, M.D. Dr. Moscicki serves as executive vice president, Science and Regulatory Advocacy and chief medical officer at PhRMA. He joined the organization in 2017 after serving as the Deputy Center Director for Science Operations for the U.S. Food and Drug Administration’s (FDA) Center for Drug Evaluation and Research (CDER) since 2013. While at FDA, Dr. Moscicki brought executive direction of Center operations and leadership in overseeing the development, implementation, and direction of CDER’s programs. Previous positions include serving as Chief Medical Officer at Genzyme Corporation from 1992 to 2011, where he was responsible for worldwide global regulatory and pharmacovigilance matters, as well as all aspects of clinical research and medical affairs for the company. He served as the senior vice president and head of Clinical Development at Sanofi-Genzyme from 2011-2013.