enzyme replacement therapy

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…

The switch to at-home infusions of enzyme replacement therapy (ERT) — made necessary due to the COVID-19 pandemic — had a positive effect on people with Pompe disease and their families, a new study has found. “Our data underline that new therapeutic solutions are possible for chronic diseases…

My 5-year-old son, Cayden, is no stranger to enzyme replacement infusions. He’s been getting them on either a weekly or biweekly basis since he was only 4 weeks old. It’s currently the only treatment option for Pompe disease, the rare genetic disease he was born with. Fortunately,…

This past week has been heavy on my heart, with my mind full of anger and frustration. I just want to go to the driving range and hit a bucket of golf balls to release some of the stress. While these feelings are not about my journey, they are…

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,…

Recently, we had a weird occurrence. For the first time, we had trouble accessing the port of my 4-year-old son, Cayden, for his infusion. A port is a small device that’s placed under the skin, usually in the chest, for multiple tasks, including blood draws, infusions, transfusions, IV fluids,…

I can remember my 4-year-old son’s first surgery like it was yesterday. Cayden was just shy of 2 months old when I watched the anesthesia team wheel away my tiny baby. It was the first of many surgeries for him, but also one of the hardest. We opted to…