Throughout 2025, the team at Pompe Disease News has brought readers updates on emerging treatments, scientific advances, and clinical findings in Pompe disease. Here is a list of the top 5 most-read news stories of this year. We are grateful to have had the opportunity to support people…
treatment
For people with late-onset Pompe disease (LOPD) who are diagnosed before developing symptoms, treatment can be delayed until signs of the condition become apparent, but regular monitoring is essential so that therapy is not delayed when it is needed. That’s the argument made by a team of scientists in…
An experimental gene therapy known as GC301 improved motor function and cardiac outcomes for three out of four infants with infantile-onset Pompe disease (IOPD) in a small clinical trial. The treatment was also well tolerated. One year after treatment, these three participants had reached milestones such as…
For years, it’s been evident that my 5-year-old son, Cayden, has extremely sensitive skin. We first noticed the issue during one of his hospitalizations as a baby. We were at the children’s hospital for his enzyme replacement infusion, and when they removed the dressing from his port…
Today is my son Cayden’s first day of kindergarten — a milestone I’ve been anticipating since he was born. While I’m ready for the break, watching him grow up is bittersweet. Kindergarten feels like such a big step compared with preschool. The transition should be pretty easy because…
Last week, my 5-year-old son, Cayden, had his annual checkup with the gastroenterologist. It’s been over a year since we last saw her, but he’s been doing so well with GI issues that she told us we no longer have to come back! This was great news that I…
Three siblings with Pompe disease caused by the same mutations were described in a recent report. Despite all having the same disease-causing mutations, the clinical presentation of the three children differed dramatically — one began showing symptoms in infancy, while another had not shown clinical abnormalities at the age…
After receiving my diagnosis of late-onset Pompe disease, it felt like a weight had been lifted off my shoulders. Finding out that I had a rare disease with a treatment was amazing. At the time, I don’t think I comprehended the fact that those treatments would last forever.
A new cell-based therapy containing a modified version of the GAA gene mutated in Pompe disease, can effectively clear out glycogen in a number of tissues, including the heart, skeletal muscles, and central nervous system (CNS), a mouse study showed. The new treatment functions as a blood stem cell…
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…