Shionogi & Co., Ltd. has announced that the first patients have joined a global Phase 2 clinical trial called Esprit. The study is testing an experimental oral treatment (S-606001) for adults with Pompe disease, specifically the late-onset form (LOPD).
Pompe disease is a rare genetic condition in which the body cannot properly break down glycogen, a stored form of sugar. This leads to a buildup in muscles, causing progressive weakness and breathing problems. Symptoms can appear at any age, and diagnosis is often delayed because the disease can look like other muscle disorders.
The new study will run for about one year and include participants in the U.S., Europe, and the UK. Researchers will test S-606001 alongside the current standard treatment, enzyme replacement therapy (ERT). ERT helps the body break down glycogen, while S-606001 is designed to reduce how much glycogen is produced in the first place. By targeting the disease in a different way, the new drug could potentially improve outcomes when used alone or together with ERT.
Experts say new treatment options are urgently needed. While ERT has improved care, its effects may decrease over time, and many patients continue to experience muscle decline.
S-606001 is still under investigation and has not yet been approved. However, it has received special designations from the U.S. Food and Drug Administration to support its development for rare diseases.
This study marks an important step toward expanding treatment options for people living with Pompe disease worldwide.
Source: Press release