Angelman Syndrome. Balo Disease. Carnosinemia. You've likely never heard of these conditions before, and for good reason. As rare diseases, each of these illnesses affects fewer than 200,000 Americans. But "rare" does not mean their impacts are less severe, or that their treatments are any less important.
February 29th - March 3rd marks Rare Disease Week, a period for patients, families and advocates to raise awareness about less common diseases, including those I just named, and their impact on patients' lives. By definition, a rare disease affects fewer than 200,000 patients in the United States on a yearly basis. With such a small patient community, Rare Disease Day and Rare Disease Week present a valuable platform to boost support for treatment and prevention. But why stop at a day or a week? This work can be done all year long!
When patients advocate on their own behalf, they can pave the way for the right tools for treatment. Programs such as the Food and Drug Administration's (FDA) Patient Focused Drug Development (PFDD) facilitate communication between patients and the decision makers who produce and review of lifesaving medicines and other medical products. These meetings give patients a chance to share their key insights and experiences that can help doctors and scientists conduct impactful research, produce effective treatments, and improve health outcomes.
This patient-focused approach was a major addition to the latest version of the Prescription Drug User Fee Act (PDUFA), which Congress reauthorized in 2012. Thanks to this legislation, patients representing a wide swath of disease states meet with the FDA each year to share what's working, what isn't, and what they'd like to see in future treatments. In the past, these meetings have covered more common diseases such as lung cancer, autism, or sickle cell disease, but also lesser known conditions like Alpha I Antitrypsin, Chagas disease, or myalgic encephalomyelitis. While not technically rare, these illnesses are far less common than major disease states, and PFDD meetings present the opportunity to make the patients' voices heard clearly.
To this point, this program has been a resounding success. In the months and years to come, could it expand to include rare diseases? Maybe. In an effort to broaden the initiative's reach, the FDA now encourages independent patient organizations to conduct externally-led meetings to generate public input on other, potentially rare, diseases. This input could very well inform the FDA's work to assist the development of precision, or personalized, medicines, another important and cutting-edge tool to treating rare diseases.
As the new version of PDUFA nears reauthorization, check back with us for new developments and to learn more about how it may aid in the fight against rare diseases. For more facts and resources during Rare Disease Week, follow us on Facebook and Twitter.