A group of experts in Europe published updated recommendations for late-onset Pompe disease (LOPD) treatment, including for the first time guidance about switching between different approved treatments. The recommendations were published in the European Journal of Neurology in a paper titled, “Start, switch and stop (triple-S)…
treatment
Every month, we receive a package at our house for my 6-year-old son, Cayden, worth almost $14,000. What could cost so much, you might wonder? Life-saving medication. Cayden receives biweekly infusions of Nexviazyme (avalglucosidase alfa), as enzyme-replacement infusions are currently the only treatment option for Pompe disease, which…
Pombiliti plus Opfolda, a combination treatment developed by Amicus Therapeutics for adults with late-onset Pompe disease (LOPD), has been selected as the winner of the 2024 Prix Galien U.K. Award for Best Pharmaceutical Product. This award is given by the Galien Foundation to recognize companies that have helped…
Researchers in the U.S. used a gene-editing tool in the lab to correct mutations known to cause infantile-onset Pompe disease, and this enabled patient-derived cells to produce a working version of the acid alpha-glucosidase (GAA) enzyme they lacked. The approach “may offer an efficacious, long-term therapy,” the researchers wrote,…
An immune system modulatory regimen effectively reduced levels of antibodies against Myozyme (alglucosidase alfa), an enzyme replacement therapy (ERT) for Pompe disease, in patients with low levels of acid alpha-glucosidase (GAA) enzyme. That’s according to data from a Phase 4 study (NCT02525172), which assessed such a regimen…
Dysfunction of the phrenic nerve, which is important for controlling breathing, was observed in a small study of late-onset Pompe disease (LOPD) patients who had ongoing respiratory dysfunction despite enzyme replacement therapy (ERT). “Our study provide new insights regarding respiratory mechanisms in LOPD,” the researchers wrote. Should their…
While the activity of the acid alpha-glucosidase (GAA) enzyme and glycogen buildup are hallmarks of Pompe disease, the lack of standardized assessments to quantify both parameters hampers evaluations of disease severity and treatment efficacy, according to a review study. All current methods, however, do confirm…
Note: This column describes the author’s son’s experiences with Nexviazyme and Lumizyme. Not everyone will have the same response to treatment. Consult your doctor before starting or stopping a therapy or changing its dose. My 6-year-old son, Cayden, has received infusions of enzyme replacement therapy for the entirety…
Parents never want to see their children experience anything hard or painful. Yet I can recall many times when I’ve had to put my 6-year-old son, Cayden, through something difficult for his own good. One of my memories from his early years is when he had to get a…
Early treatment with at least two cycles of bortezomib may help lower the levels of antibodies that can make enzyme replacement therapy (ERT) less effective, according to a report of two young children with infantile-onset Pompe disease. The cases add to earlier reports that bortezomib, an injectable medication…
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