classic infantile-onset Pompe disease

A few weeks ago, I discussed how we were eyeing a medication switch to Nexviazyme (avalglucosidase alfa) for my 4-year-old son, Cayden. But switching to this new drug may not be as easy as his doctors and I were hoping. Cayden has been receiving Lumizyme (alglucosidase alfa) infusions…

AVR-RD-03, Avrobio‘s experimental blood stem cell gene therapy for classic infantile-onset Pompe disease, was found to be safe and effective in a mouse model of the disease. The findings, presented as a poster at the 2022 annual meeting of the American Society of Gene & Cell Therapy (ASGCT)…

Adding L-alanine supplements to standard enzyme replacement therapy (ERT) for a young girl with Pompe disease led to improvements in several metabolic and body composition measures, a case report shows. According to researchers, this was the first known report of oral supplements of L-alanine — an amino acid,…

When you have a child, you have so many concerns and thoughts. One came up soon after I had my son, Cayden, four years ago. He was diagnosed with infantile-onset Pompe disease at just 1 month. At the time, I had no clue whether I wanted others to know his…

Infantile-onset Pompe disease has caused a lot of challenges for my 4-year-old son, Cayden. Until recently, he was never able to communicate with us verbally. We depended on a few different types of nonverbal communication devices and techniques, which I’ve discussed before. But his ability to speak just…

It was nerve-wracking for my son, Cayden, to be the first child in Pennsylvania diagnosed with infantile-onset Pompe disease via newborn screening. It was four years ago, but I still remember it like it was yesterday. Back then, Cayden’s visits felt very unorganized. However, our team of doctors has…

Most children with Pompe disease in a small study developed antibodies against the enzyme replacement therapy Myozyme (alglucosidase alfa) — marketed in the U.S. as Lumizyme — but their presence did not limit treatment efficacy, its researchers reported. Children with the highest levels of antibodies also experienced most of…

Patients with classic infantile-onset Pompe disease could benefit from increased dosing of Myozyme (alglucosidase alfa), an enzyme replacement therapy (ERT) marketed as Lumizyme in the U.S., according to a real-world European study. Benefits were seen in improved survival and ability to walk. “On the basis of our results,…

Last week, I experienced every parent’s worst nightmare. When my 3-year-old son, Cayden, woke up the other day, I noticed he was coughing a lot more than usual. I prepared to do what we do every morning: remove his BiPAP machine and deliver his breathing treatments, which consist of…

Oftentimes, a person with a rare disease may struggle with day-to-day activities such as walking, talking, eating, and getting dressed. This is the case for my 3-year-old son, Cayden. At the young age of 1 month, Cayden was diagnosed with a very rare genetic disease known as infantile-onset Pompe…