enzyme replacement therapy

Increasing a dose of medicine can be nerve-wracking

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…

Antibodies to ERT may not limit response in LOPD

Nearly 1 in 4 adults with late-onset Pompe disease develop high levels of antibodies against enzyme replacement therapy (ERT). However, that does not mean they have a reduced response to treatment, a systematic review study has revealed. The findings are in line with previous data from patients with…

Blood NfL levels linked to cognitive deficits in IOPD

Blood levels of neurofilament light chain (NfL) — a marker of nerve cell damage — are increased from infancy to young adulthood in classic infantile-onset Pompe disease (IOPD) patients given enzyme replacement therapy (ERT), a study shows. This contrasted significantly with the blood NfL level reduction seen in…

ERT prolongs survival in classic IOPD, study finds

Among children with classic infantile-onset Pompe disease (IOPD), enzyme replacement therapy (ERT) was associated with prolonged survival, but mortality rates remained high, according to a recent French study. In general, while mortality rates were high in the first three years of life, patients then stabilized on ERT for…

Study examines gene activity changes in LOPD

Late-onset Pompe disease (LOPD) patients exhibit significant gene activity changes in their skeletal muscles compared with healthy people, some of which were normalized after six months of Nexviazyme (avalglucosidase alfa) treatment, a study found. Pathways involved in lysosome function, energy metabolism, and inflammation appeared to be most altered,…