Pompe disease

It’s been a little more than 18 months since my 5-year-old son, Cayden, made the switch to Nexviazyme (avalglucosidase alfa) infusions as the main treatment for his infantile-onset Pompe disease. We started seeing improvements almost immediately, but now that he’s been on the new medication…

Pompe disease is less prevalent than expected in Spain, at around 3.1 cases per million inhabitants, according to a registry study that identified regional differences in prevalence, as well as the variable diagnosis and care workouts. “Our data supports the development of agreed guidelines to ensure that the care…

Researchers in Taiwan have developed new molecules that can stabilize the acid alpha-glucosidase (GAA) enzyme, a strategy they say might improve the effectiveness of treatments for Pompe disease. Their study, “Harnessing polyhydroxylated pyrrolidines as a stabilizer of acid alpha-glucosidase (GAA) to enhance the efficacy of enzyme…

A new cell-based therapy containing a modified version of the GAA gene mutated in Pompe disease, can effectively clear out glycogen in a number of tissues, including the heart, skeletal muscles, and central nervous system (CNS), a mouse study showed. The new treatment functions as a blood stem cell…

Health advocacy can help improve the quality and accessibility of care for patients with rare disorders like Pompe disease. Following is information about patient advocacy in general, and Pompe disease specifically, and why it is important for patients, caregivers and family members. What is Pompe disease? Pompe disease is a…

Lumizyme (alglucosidase alfa) is an enzyme replacement infusion therapy by Sanofi Genzyme for people with Pompe disease. In the European Union, it is available under the brand name Myozyme. Here are answers to some frequently asked questions about this treatment. How does Lumizyme work? Lumizyme works to replace…

The diagnosis of a chronic, progressive disorder such as Pompe disease for yourself or a family member can be life-altering. Psychological support can help reduce the added stress and negative emotional impact of such a diagnosis on you and your family. The following will provide some information about the…

A glance around the walls of Barry J. Byrne’s office reveals a lot about the pediatric cardiologist who runs the Powell Gene Therapy Center at University of Florida (UF). In one corner is an unusual painting by 9-year-old Will Barkowsky of Jacksonville, Fla. Will, the first boy with…