Despite treatment for years with Myozyme (alglucosidase alfa) — marketed in the U.S. as Lumizyme — people with late-onset Pompe disease (LOPD) still develop airway abnormalities and experience reduced lung function, a small Taiwanese retrospective study shows. While none of the five patients in the study required a ventilator…
enzyme replacement therapy
Antioxidants can increase the effectiveness of enzyme replacement therapy (ERT) for Pompe disease caused by oxidative stress, the damage in cells or tissues by reactive oxygen molecules, according to a study in cells and mice. The findings also showed that enhancing autophagy — the destruction of damaged or redundant…
Getting a six-and-a-half-hour enzyme replacement infusion once a week can be stressful. And I’m not even the one getting it. My son, Cayden, 3, gets an infusion called Lumizyme (alglucosidase alfa) to treat his infantile-onset Pompe disease. While the infusions have become routine for…
I will always be grateful I found our Pompe disease family. It brings me great joy when others find us and join the community, too. A Facebook blog I made for my 3-year-old son, Cayden, started off fairly small. But over the…
A new enzyme replacement therapy (ERT) targeting specific cell types boosts the delivery of acid alpha-glucosidase (GAA) — the enzyme missing or defective in Pompe disease patients — to muscle and heart cells, a study shows. Compared to standard ERT, the targeted approach by Regeneron Pharmaceuticals normalized the…
Starting treatment with enzyme-replacement therapy (ERT) in the first days of life appears to lessen the risk of hearing impairments in children with infantile-onset Pompe disease (IOPD), researchers report. “Our study may enhance awareness of early intervention before hearing-related morbidities can develop in patients with IOPD,” its researchers…
Getting a toddler to understand things is a hard enough task by itself. However, trying to get my 3-year-old son, Cayden, to understand the things he has to go through due to his Pompe disease is even more challenging. Because of Pompe disease, he has been through more hardships than…
The U.S. Food and Drug Administration (FDA) has approved Nexviazyme (avalglucosidase alfa), a next-generation enzyme replacement therapy for late-onset Pompe disease. The medication, administered by infusion into the bloodstream every two weeks, is approved for patients 1 year or older and is expected to be available in the…
A committee of the European Medicines Agency (EMA) has recommended the approval of avalglucosidase alfa, a next-generation enzyme replacement therapy (ERT) developed by Sanofi Genzyme, for people with Pompe disease. That recommendation, by the Committee for Medicinal Products for Human Use (CHMP), paves the way for marketing authorization to be granted by…
Walking distance improved in late-onset Pompe disease patients on enzyme replacement therapy (ERT), while their lung function and muscle strength remained unchanged, a meta-analysis has found. More studies are, however, needed to confirm these findings and “to obtain more…