Researchers defined a threshold for improvements in lung function that adults with late-onset Pompe disease (LOPD) perceive as clinically meaningful when treated with enzyme replacement therapies. A study found that when thresholds were applied to data from the Phase 3 COMET study, more Pompe patients treated with the…
ERT
A desensitization protocol allowed doctors to successfully treat an infant with classic infantile-onset Pompe disease (IOPD) who developed an allergic reaction to Myozyme (alglucosidase alfa), according to a report. The protocol, which was also used when the patient switched to Nexviadyme (avalglucosidase alfa), involved delivering the Pompe…
Many adults with late-onset Pompe disease (LOPD) see their own health status as declining over time, with difficulty swallowing and speaking, and scoliosis (sideways curvature of the spine) being burdensome symptoms for those on enzyme replacement treatment (ERT) for more than 15 years, a survey study has found.
Higher-than-approved doses of enzyme replacement therapy, or ERT, normalized several features of infantile-onset Pompe disease (IOPD), including motor and heart function, in the first patient enrolled in a pilot study. The patient began high-dose ERT as a newborn, and eventually met all developmental milestones by age 7. With…
Pombiliti plus Opfolda (cipaglucosidase alfa/miglustat) may offer significant advantages over earlier forms of enzyme replacement therapy (ERT) for Pompe disease, according to an analysis of preclinical and clinical data. Researchers reviewed all available data about the combination therapy’s mechanism and therapeutic effects and determined that it can overcome challenges…
Two girls in Colombia with early-onset Pompe disease saw their symptoms improve after methotrexate treatment reduced the levels of antibodies they had developed against enzyme replacement therapy (ERT), according to a case report. ERT antibodies can cause the therapy to stop working. Methotrexate, a chemotherapy, can work as an…
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)…
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…
Most people with classic infantile-onset Pompe disease (IOPD) develop brain abnormalities despite treatment with Myozyme (alglucosidase alfa), and these abnormalities are associated with poorer results on cognitive tests. That’s according to a study, “Long term survival in patients with classic infantile Pompe disease reveals 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…