Developing Therapies for Rare Diseases: Kinnari Patel, PharmD

“The best way to understand the disease is to partner with patients and caregivers and patient communities to know what's important to them. What is the disease burden for them, and how did they get diagnosed to begin with? What are the diagnostic barriers that they have to face and overcome, what are the things that they're living with, and what would be important for them, to contemplate a need for therapy? These are things that we really invest on from the beginning.”

Rare diseases affect over 300 million people worldwide, with over 7000 diseases designated as rare. Monday, February 28, is international Rare Disease Day, and in recognition of the day, the National Institutes of Health hosted a Rare Disease Day conference to bring together researchers, patients, advocates, and policy makers.

Companies are developing gene and cell therapies for rare diseases such as Danon disease, which is the focus of Rocket Pharmaceuticals’ lead program, RP-A501. The gene therapy is currently being evaluated in a phase 1 trial. Rocket is also developing therapies for other rare diseases, including Fanconi anemia, leukocyte adhesion deficiency-1, and pyruvate kinase deficiency.

CGTLive spoke with Kinnari Patel, PharmD, president and chief operating officer, Rocket Pharma, to learn more about the importance of Rare Disease Day in the cell and gene therapy space. She discussed the importance of collaboration between companies, academia, and patient advocacy groups as well as how collaboration could be improved moving forward.