enzyme replacement therapy

A new noninvasive imaging tool called quantitative muscle ultrasound, or QMUS, can detect progressive muscle disease in people with infantile-onset Pompe disease (IOPD) who are on enzyme replacement therapy (ERT), according to a small study by U.S. researchers. The study found that QMUS correlated with functional status and…

Scientists at Sanofi have developed a new type of enzyme replacement therapy (ERT) that can clear excess glycogen — the underlying cause of Pompe disease — from the cells in the brain and spinal cord, which are untouched by current ERTs. That’s according to a mouse…

I remember the day my 6-year-old son, Cayden, was diagnosed with infantile-onset Pompe disease like it was yesterday. Hearing the news broke me, and I was scared half to death. I had no idea what to expect, and searching the internet didn’t help because I came across a…

Dyne Therapeutics has unveiled promising preclinical data for its enzyme replacement therapy (ERT) FORCE-GAA — part of the company’s propriety FORCE platform — designed to treat Pompe disease. The novel therapy has demonstrated the potential to deliver the treatment directly to skeletal and heart muscles, as well…

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…

Switching to Nexviadyme (avalglucosidase alfa) from Myozyme (alglucosidase alfa) can help to halt the worsening of motor function in adults with late-onset Pompe disease (LOPD), according to a recent study in France. However, no significant differences in lung function were reported after patients switched these enzyme…

Using self-reported outcomes by adults with Pompe disease, researchers were able to estimate the minimal clinically important difference or MCID — the smallest outcome change that a patient perceives as important following treatment — after one year of enzyme replacement therapy (ERT). The differences reported by patients as clinically…

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 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…

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…