Robert J. Hopkin, MD, on the Unmet Needs in Fabry Disease Treatment

“The current standard of care for Fabry disease is enzyme replacement... That process takes about half a day, every 2 weeks, on average. For treatment, there's a large burden of care. In addition, the enzyme is a big molecule, and it doesn't get into every tissue type that we would like it to as well as one might hope. We are clearly making a positive difference in the disease. It's improving people's lives, it's prolonging people's lives, but it's not reaching the end goal: a patient who has a lifespan that is expected to be similar to the general population and a quality of life that is also similar to the general population.”

Fabry disease is a rare lysosomal storage disease caused by a deficiency of the enzyme α-galactosidase A (a-Gal A). The current standard of care includes enzyme replacement therapy and an oral medication. However, both of these options are imperfect and can carry significant drawbacks, complicating clinical care.

Robert J. Hopkin, MD, an associate professor of clinical pediatrics at Cincinnati Children's Hospital Medical Center, recently presented data from the phase 1/2 STAAR clinical trial (NCT04046224), which is evaluating Sangamo Therapeutics' isaralgagene civaparvovec (ST-920), an investigational gene therapy intended to treat Fabry disease, at the WORLDSymposium 2023, held February 22-26, in Orlando, Florida.

In an interview with CGTLive, Hopkin discussed the various symptoms of Fabry disease, which affect multiple organs throughout the body, and gave an overview of the typical progression of the disease. He also spoke about the current standards of care for Fabry disease, pointing out the limitations of each, elucidating the need for new treatments for patients with this disease.