The last approved treatment option for Pompe disease in Europe was given approval in 2006, so 16 years ago. However, the European Commission (EC) recently approved a new therapeutic option in a landmark decision. According to a news release from multinational healthcare company Sanofi, the company’s treatment option Nexviazyme (avalglucosidase alfa) was recently approved for long-term, sustained treatment. Even more importantly, Nexviazyme was approved for both the late-onset and infantile-onset forms of Pompe disease, allowing the treatment to be administered to more patients.

Pompe Disease: An Overview

GAA gene mutations cause Pompe disease, a rare genetic disorder. These gene mutations prevent the body from having enough acid alpha-glucosidase (GAA), an enzyme which helps break down a complex sugar called glycogen. As glycogen accumulates in cells, tissues, and organs, it can cause serious and sometimes life-threatening problems. Pompe disease is usually characterized as classic infantile-onset, non-classic infantile-onset, and late-onset. Those with the classic form often experience symptoms — such as muscle weakness, an enlarged liver, and heart and breathing problems — within a few months of birth. This form, without treatment, is fatal within the first two years of life. In the non-classic infantile-onset form, symptoms typically manifest within the first year of life, with it becoming fatal in early childhood. Heart failure is less common in this form. Finally, late-onset manifests from late childhood through adulthood, is often milder, and has less heart involvement.

About Nexviazyme

Nexviazyme is an enzyme replacement therapy (ERT) which targets the mannose-6-phosphate (M6P) receptor. It binds to cells with high affinity and then enters the cells to help break down glycogen. As Nexviazyme has been developed, Sanofi has experienced roadblocks. For example, certain agencies have stated that Nexviazyme should not count as an Orphan Medicinal Product or a New Active Substance. While Sanofi disagrees, it is still positive that the drug has been approved overall.

Data from the Phase 3 COMET study showed Nexviazyme had advantages when compared to alglucosidase alfa. Nexviazyme improved respiratory function. It also helped stabilize gross and quick motor function, improved walking ability, and reduced symptom severity. Altogether, Nexviazyme is safe and somewhat well-tolerated. However, some adverse reactions have occurred with treatment. These include:

• Headache
• Chills
• Shortness of breath or respiratory distress
• Nausea
• Rash or skin itchiness
• Fatigue
• Skin discoloration
• Increased heart rate, blood pressure, and/or body temperature
• Hypersensitivity, allergic reactions, or infusion-related reactions