Long-term treatment with Myozyme (alglucosidase alfa) — marketed in the U.S. as Lumizyme — results in variable but satisfactory motor and respiratory outcomes among older adults recently diagnosed with late-onset Pompe disease (LOPD), a study from Germany reported. According to its researchers, these findings were…
enzyme replacement therapy
Patients with classic infantile-onset Pompe disease could benefit from increased dosing of Myozyme (alglucosidase alfa), an enzyme replacement therapy (ERT) marketed as Lumizyme in the U.S., according to a real-world European study. Benefits were seen in improved survival and ability to walk. “On the basis of our results,…
Gene therapy given with chaperones — specific molecules known to stabilize the structure of proteins — was found to enhance the availability of acid alpha-glucosidase, known as GAA, the missing or defective enzyme in Pompe disease (PD), in a mouse model. The treatment subsequently eased disease symptoms, with the…
L-carnitine — a molecule often taken as an oral dietary supplement — boosts the efficacy of enzyme replacement therapy (ERT), increasing by four times the activity of acid alpha-glucosidase (GAA), the faulty enzyme in Pompe disease, in patient-derived cells, a study shows. The molecule was found to stabilize…
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…
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…