enzyme replacement therapy

My 5-year-old son, Cayden, is no stranger to enzyme replacement infusions. He’s been getting them on either a weekly or biweekly basis since he was only 4 weeks old. It’s currently the only treatment option for Pompe disease, the rare genetic disease he was born with. Fortunately,…

Pombiliti (cipaglucosidase alfa), a component of AT-GAA, a two-part investigational therapy, has been approved to treat adults with late-onset Pompe disease (LOPD) in the European Union. The European Commission (EC) ruling comes on the heels of a positive opinion issued by the Committee for Medicinal Products for Human…

This past week has been heavy on my heart, with my mind full of anger and frustration. I just want to go to the driving range and hit a bucket of golf balls to release some of the stress. While these feelings are not about my journey, they are…

Every other week, my son Cayden, who’s almost 5, receives an enzyme replacement infusion as part of his treatment for infantile-onset Pompe disease. The infusion typically takes about six hours, and although we’re used to the routine, it does make for a very long day. Cayden has…

Anaphylaxis, a severe allergic reaction, occurred in nearly one-third of children with Pompe disease treated with the enzyme replacement therapy Myozyme (alglucosidase alfa) in a small study. However, rapid desensitization regimens — using small doses initially and then increasing the doses — safely re-established tolerance to Myozyme in…

Nexviadyme, (avalglucosidase alfa), Sanofi’s next-generation enzyme replacement therapy for Pompe disease, will now be available in the U.K. through the National Health Service (NHS). That’s according to a review from the National Institute for Health and Care Excellence that deemed Nexviadyme as an option for treating people —…

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 1-year-old toddler with infantile-onset Pompe disease has normal heart and motor function and is growing well after receiving in-utero enzyme replacement therapy (ERT) with Lumizyme (alglucosidase alfa) and standard postnatal immunotherapy, according to a report. The successful outcome with Ayla is the result of the first in-utero use…

Recently, we had a weird occurrence. For the first time, we had trouble accessing the port of my 4-year-old son, Cayden, for his infusion. A port is a small device that’s placed under the skin, usually in the chest, for multiple tasks, including blood draws, infusions, transfusions, IV fluids,…

Enzyme replacement therapy (ERT) was effective in a newborn with infantile-onset Pompe disease (IOPD) who developed treatment antibodies and had low blood levels of a type of immune cell called neutrophils, according to a case report. Researchers stressed the importance of including Pompe disease in newborn screening programs…