According to NORD, There are more than 7,000 known rare diseases, and the number of Americans living with a rare disease is estimated at 25-30 million. Beyond the symptoms of their disease, patients face a challenging journey that may include finding a diagnosis, hoping and advocating for a treatment, and navigating roadblocks to equitable access to healthcare.
Through our recently announced collaboration with Stoke Therapeutics, we are pursuing new possibilities for the treatment of rare, neurodevelopmental diseases, including SYNGAP1 syndrome, a severe neurological disorder evident in early childhood and associated with developmental delays, motor function loss, and other comorbidities that impact quality of life for patients and their families.
Our clinical development of a treatment for Rett syndrome – a rare, debilitating neurological disorder that occurs primarily in females following apparently normal development for the first 6-18 months of life – will be submitted in a New Drug Application (NDA) to the FDA this year. It could be the first approved treatment for the estimated 6,000-9,000 Rett patients in the U.S. and Acadia’s first commercial entry into the rare disease space
At Acadia, we are committed to elevating the lives of people with rare disease. It’s so important that we have that open mind – to listen to both what the community is telling us about their disease and their journey, but also listen to what is needed. And then we try to be responsive to that.
Kathie Bishop, Ph.D., Senior Vice President, Head of Rare Disease and External Innovation at Acadia
Advocacy is vital to supporting these rare disease communities both on Rare Disease Day, which is February 28, and throughout the year. Acadia has joined with the International Rett Syndrome Foundation to support educational webinars and introduced the Rett Parents Council to reach out to the Rett community and learn first-hand their challenges and needs.