Robert J. Hopkin, MD, on Looking Deeper into Fabry Disease Biology

“We know that the stored material causes problems. But one of the questions that we haven't understood very well is how does that cause problems? And we know that some of it is just the presence of this substance that builds up. But there's growing evidence that that the presence of distorted material causes distress to the cells, which leads to inflammation, as the body's defenses ramp up to protect the tissues. And there's now emerging data on how that works. And we're hoping that we will be able to find which biomarkers of inflammation are initiating that inflammatory response."

Sangamo has an abbreviated pathway to approval of its gene therapy ST-920 (isaralgagene civaparvovec) for treating Fabry disease, if the company can find a collaboration partner to advance the therapy through potential registration and commercialization. A recent Type D meeting with the FDA advised that a single study of ST-290 in 25 patients with Fabry without a control arm or head-to-head with enzyme replacement therapy (ERT), in combination with confirmatory evidence, may be an acceptable pathway to a Biologics License Application (BLA).

CGTLive® spoke with Robert J. Hopkin, MD, associate professor, clinical pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, to learn more about ST-290 and future research for Fabry disease. Hopkin discussed other investigations into novel therapies for Fabry, including ex vivo gene-edited cell therapy. He also discussed further research looking deeper into the biology of Fabry disease and the importance of gaining a better understanding of it. One recent theory behind Fabry’s biologyposits that inflammation may be a key driver of disease mechanisms.

REFERENCE

Sangamo Therapeutics Announces U.S. FDA Alignment on Abbreviated Pathway to Potential Approval and EMA Prime Eligibility for ST-920 in Fabry Disease. News release. Sangamo Therapeutics. February 12, 2024. https://investor.sangamo.com/news-releases/news-release-details/sangamo-therapeutics-announces-us-fda-alignment-abbreviated