Shionogi has dosed the first patients in the phase 2 clinical trial evaluating S-606001, a potential treatment for late-onset Pompe disease (LOPD).
The trial, Espirit, is a multicentre, randomised, placebo-controlled, double-blind study that will last 52 weeks, with patients enrolled from across the US, EU and UK.
Espirit will evaluate S-606001’s efficacy, safety and pharmacodynamics when treating adults with a confirmed diagnosis of LOPD compared to standard of care enzyme replacement therapy (ERT).
Affecting around one in every 22,000 people worldwide, Pompe disease is a rare genetic metabolic disorder that causes an accumulation of glycogen in tissues throughout the body, which can lead to severe weakness and respiratory issues.
Brad Crittenden, Chairman, International Pompe Association and Executive Director, Canadian Association of Pompe, said: “The Pompe community is greatly appreciative of Shionogi’s commitment to developing new treatment options for people living with late-onset Pompe disease. Each person deserves alternatives to help them best manage their condition.”
S-606001 is an investigational SRT that is believed to work by limiting glycogen build-up in muscle lysosome by inhibiting glycogen synthase (GYS1). ERT, the current approved treatment for Pompe disease, infuses more GAA enzyme to increase glycogen breakdown. SRT blocks the GYS1 enzyme to slow down glycogen build-up. Compared to ERT, SRT targets the opposite side of the glycogen build-up, with the potential to work alone or in combination with ERT.
Juan Carlos Gomez, Chief Medical Officer at Shionogi, said: “There is a significant unmet need for new treatment approaches that can be complementary to existing treatments to further slow disease progression.
“This is an important milestone for Shionogi, as we continue to expand our work in rare disease, and we hope it will prove to be an important step forward for the Pompe community.”
S-606001 received a rare paediatric disease designation and an Orphan Drug Designation from the US FDA in 2025 and 2022, respectively.