treatment

For people with late-onset Pompe disease (LOPD) who are diagnosed before developing symptoms, treatment can be delayed until signs of the condition become apparent, but regular monitoring is essential so that therapy is not delayed when it is needed. That’s the argument made by a team of scientists in…

Pompe disease patients bear a substantial burden from coexisting conditions and the ongoing need for supportive care, despite treatment with enzyme replacement therapy (ERT), a real-world study in the U.S. found. Researchers also found a relatively high rate of ERT discontinuation, particularly among people with late-onset Pompe…

Switching from Lumizyme (alglucosidase alfa) to the newer treatment Nexviazyme (avalglucosidase alfa) improved muscle strength and eased airway issues in a young man with late-onset Pompe disease (LOPD). That’s according to a new case report from researchers in Taiwan that detailed the benefits seen with the switch…

Switching to Nexviazyme (avalglucosidase alfa) was safe and effective in a 12-year-old boy with infantile-onset Pompe disease (IOPD) who developed a strong immune response against Lumizyme (alglucosidase alfa) that affected treatment efficacy. That’s according to a case study in South Korea, which supports the use of Nexviazyme…

A simple, noninvasive breathing intervention that briefly exposes the body to repeated bouts of low oxygen modestly improved breathing in a mouse model of Pompe disease, a study showed. Therapeutic acute intermittent hypoxia (tAIH) led to small but measurable increases in breathing rate, breath size, or the amount of…

Using Nexviazyme (avalglucosidase alfa) led to sustained improvements in lung function, walking ability, and other motor skills over nearly three years of treatment in people with late-onset Pompe disease (LOPD), according to newly shared results from a global clinical trial. LOPD patients who switched to Nexviazyme after one…

For adults with late-onset Pompe disease (LOPD), Pombiliti + Opfolda (cipaglucosidase alfa/miglustat) appears to offer lasting benefits. New four-year data from a Phase 3 trial show the combination treatment helped sustain improvements in motor function and disease biomarkers in patients who had previously been treated with standard…

Locations where antibodies bind to enzyme replacement therapy (ERT) and potentially reduce its effectiveness in treating Pompe disease can now be identified using a drop of blood, a study reports. Knowing where anti-ERT antibodies bind may help find interventions to diminish the immune responses that generate them and also…

Orthodontic treatment successfully addressed speech and swallowing problems in a young girl with infantile-onset Pompe disease (IOPD), according to a case report from Italy. “The approach outlined in this paper serves as an illustrative example of orthodontic treatment for addressing speech and swallowing difficulties in patients with Pompe Disease,”…

Reduced activity of the COL13A1 gene, which codes for a protein involved in the communication between nerves and muscles, may contribute to the neuromuscular dysfunction and muscle weakness seen in people with Pompe disease, a new study suggests. This gene’s activity seems to be mediated by levels of glucose…