treatment

It’s been a little more than 18 months since my 5-year-old son, Cayden, made the switch to Nexviazyme (avalglucosidase alfa) infusions as the main treatment for his infantile-onset Pompe disease. We started seeing improvements almost immediately, but now that he’s been on the new medication…

The COVID-19 pandemic affected the treatment, as well as the physical and mental health, of people with Pompe disease, according to a recent survey of patients in 25 countries. More than 50% of respondents reported interruptions in enzyme replacement therapy (ERT) and physical therapy, affecting their disease, and…

Higher doses of Lumizyme (alglucosidase alfa) than what’s approved may improve survival outcomes for children with classic infantile onset Pompe disease (IOPD), according to a new study. An analysis of data from the Pompe Registry collected over nearly two decades showed that IOPD patients given Lumizyme at higher…

Not everybody is a morning person, myself included. Nonetheless, the whole idea of sleeping in went out the window years ago when I had my son Cayden, who’s now age 5. Cayden is a fairly good sleeper, but between his school and appointments, we rarely have a day when we…

Pompe disease is less prevalent than expected in Spain, at around 3.1 cases per million inhabitants, according to a registry study that identified regional differences in prevalence, as well as the variable diagnosis and care workouts. “Our data supports the development of agreed guidelines to ensure that the care…

Last week, my 5-year-old son, Cayden, had a checkup with his cardiologist, the specialist who monitors his heart. Cayden has been seeing a cardiologist since he was just 1 month old. Back then, his heart was severely affected by his infantile-onset Pompe disease. It has since corrected…

A stem-cell based gene therapy that’s modified for better entry into muscle cells was seen to normalize protein levels in the skeletal muscle tissue of a mouse model of Pompe disease, according to a new report. The Pompe mice exhibited altered levels of hundreds of proteins — including ones…

A man with late-onset Pompe disease (LOPD) was initially misdiagnosed with an inflammatory muscle disease called polymyositis, according to a case study highlighting the need to incorporate imaging tests in clinical practice to reduce the delay in diagnosis and treatment. After medication failed to improve his muscle strength, the…

Bringing a third medication for late-onset Pompe disease (LOPD) to the treatment table is a personal triumph for Amicus Therapeutics executive chairman John Crowley. Pursuit of this new treatment for LOPD, while working to find a hoped-for cure, began just more than 25 years ago when Crowley’s children…

The use of a multidisciplinary treatment approach was described in a recent case report of a boy in the U.S. with late-onset Pompe disease (LOPD) and chronic pain. The strategy consisted of orthopedics, physical therapy, and psychosocial therapy. The boy also had behavioral and mood disorders, which could further…