Today, we join patients and their loved ones from across the country and around the world in observance of Rare Disease Day. No matter how many patients may be impacted, each disease is far from rare for those who live with it every day. That’s why America’s biopharmaceutical research companies are working around the clock to develop new treatments that can provide hope and relief for those living with rare diseases. As we recognize Rare Disease Day, here are four things to know.
1. Unmet medical need is significant. In the U.S., any disease that affects 200,000 or fewer patients is considered a rare disease. While each individual condition may be rare, data demonstrates there are more than 7,000 known rare diseases affecting more than 30 million Americans, including 15 million children. Rare diseases include cystic fibrosis, sickle cell disease, Huntington’s and muscular dystrophy just to name a few. Sadly, less than 10% of rare diseases have a treatment approved by the U.S. Food and Drug Administration (FDA), which means more than nine out of 10 rare disease patients are eagerly waiting for new treatments and cures.
2. We’ve made important progress. Congress passed the Orphan Drug Act, which created several incentives to spur the development of new treatments for rare diseases. It worked. Since ODA was enacted in 1983, more than 750 medicines have been FDA approved for rare diseases. In the decade before the ODA, only 10 medicines were approved for rare diseases.
3. More help is on the way. According to our most recent report, there are more than 700 medicines in the R&D pipeline for rare diseases, a number that has grown significantly in recent decades. Despite the many difficulties of developing new medicines for rare diseases – such as understanding the scientific complexities of disease and recruiting enough patients to launch clinical trials – there are still dozens of treatments being researched for rare cancers, genetic disorders, autoimmune diseases and neurological disorders.
4. Government policies matter. The progress that’s been made is because America’s unique innovation ecosystem encourages biopharmaceutical R&D through policies like the Orphan Drug Act, predictable regulations for drug reviews and approvals and strong intellectual property protections. Unfortunately, harmful policies like government price setting threaten future progress. While the Inflation Reduction Act does provide an exemption from price setting for medicines with a single orphan designation and indication(s) only within that designation, the exemption is far too narrow and is expected to shift R&D incentives and negatively impact orphan drug development.
We owe it to all patients with rare diseases to work together to remove any obstacles that make it harder to research and develop new medicines. On this Rare Disease Day, let’s renew our commitment to build upon the medical progress we’ve made and create a future where more rare disease patients have the treatments and cures they need.
Lucy Vereshchagina, PhD
Dr. Lucy Vereshchagina is executive vice president of science and regulatory advocacy at PhRMA. In this role, Dr. Vereshchagina leads PhRMA’s science and regulatory advocacy department supporting PhRMA’s policy, advocacy and science priorities, as well as global regulatory advocacy efforts, including the International Council for Harmonization (ICH). Dr. Vereshchagina was the lead PhRMA negotiator for both PDUFA VII and BsUFA III and testified before Congress on the agreements’ reauthorization.
Prior to joining PhRMA in 2012, Dr. Vereshchagina spent over 12 years with the FDA & Healthcare Practice at an international law firm and the Investigational Drug Branch at the National Cancer Institute. She has a master’s degree in Biochemistry and Chemistry, earned her Ph.D. in Chemistry at the Catholic University of America, and completed her post-doctoral studies in molecular biology and immunology at the Walter Reed Army Institute of Research.
Lucy Vereshchagina
https://www.linkedin.com/in/lucy-vereshchagina-phd-416b27a/
Executive Vice President of Science and Regulatory Advocacy
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Rare Diseases
Research and Development
4 things to know on Rare Disease Day
Scientist looking through a microscope