Scientists at Sanofi created digital counterparts of people with Pompe disease to support drug development and advance Pompe disease treatment. In a simulated clinical trial of digital twins with infantile-onset Pompe disease (IOPD), Sanofi’s Nexviazyme (avalglucosidase alfa), an enzyme replacement therapy, outperformed its first-generation Lumizyme (alglucosidase alfa)…

A woman was diagnosed with advanced late-onset Pompe disease after three decades of being misdiagnosed, according to a recent case report. After diagnosis, the woman began treatment with Myozyme (alglucosidase alfa), which led to marked improvements that enabled her to live independently. The findings underscore a need for…

A small study in the U.K. is evaluating a noninvasive MRI-based tool that could potentially detect late-onset Pompe disease (LOPD) without the need for invasive muscle biopsies. This specialized muscle MRI also would monitor glycogen buildup — a hallmark of the condition — in muscles over time. The…

Newly approved Nexviazyme (avalglucosidase alfa) is a next-generation, alternative enzyme replacement therapy for late-onset Pompe disease patients starting at age 1. In clinical trials that supported the Aug. 6 approval by the U.S. Food and Drug Administration (FDA), meaningful improvements in respiratory muscle strength and mobility were evident in patients given…

The use of enzyme replacement therapy is safe and effective in Japanese people living with Pompe disease, a new study shows. Titled “Long-Term Observation of the Safety and Effectiveness of Enzyme Replacement Therapy in Japanese Patients with Pompe Disease: Results From the Post-marketing Surveillance,” the study…