Global Awareness, Diagnosis a Priority for Rare Diseases: Michael Parini, JD

“For some diseases, there's fairly standard diagnostic tests... that are routine in certain parts of the world. I think in other parts of the world, it's not routine. There are often misdiagnoses and missed opportunities to help patients or enroll them in clinical trials that could change their lives. I do think diagnosis is key, and diagnosis beyond just Western Europe and the US is an important part of what we as an industry and what patient organizations should be focused on... if there are patients there, we could figure out a way to get them access to the best care in the world. Knowing they're there is a really important part of that.”

February 28th marked international Rare Disease Day, which recognizes over 7000 rare conditions that affect over 300 million people worldwide. Researchers, patients, advocates, and policy makers were brought together in conversations on how to improve awareness and management of rare diseases.

Freeline Therapeutics is one of several biotech companies focused on rare diseases – the company is developing adeno-associated virus gene therapies for hemophilia B (FLT180a; NCT05164471), Fabry disease (FLT190; NCT04040049), and Gaucher disease (FLT201). Freeline recently announced positive data from their MARVEL-1 trial of FLT190 and clinical trial design for their type 1 Gaucher program at the 18th Annual WORLDSymposium, February 7 – 11, 2022, San Diego, California.

CGTLive spoke with Michael Parini, JD, chief executive officer and director, Freeline Therapeutics, to discuss the importance of Rare Disease Day, including the importance of global awareness and diagnosis of rare diseases outside the US and Europe, and how collaboration is key to developing therapies in this space.

REFERENCE

Freeline presents on Its Fabry and Gaucher disease AAV-basedgene therapies at the 18th Annual WORLDSymposium™. News release. Freeline Therapeutics. February 8, 2022. https://www.freeline.life/investors/newsroom/freeline-presents-on-its-fabry-and-gaucher-disease-aav-based-gene-therapies-at-the-18th-annual-worldsymposium/