enzyme replacement therapy

The switch to at-home infusions of enzyme replacement therapy (ERT) — made necessary due to the COVID-19 pandemic — had a positive effect on people with Pompe disease and their families, a new study has found. “Our data underline that new therapeutic solutions are possible for chronic diseases…

Cardiac function normalized within a year of starting enzyme replacement therapy (ERT) for children with classic infantile-onset Pompe disease (IOPD) and remained stable over about 10 years, a study found. The findings were confirmed with standard and more advanced techniques to look at cardiac function. In light of the…

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…