Steve Bryson, PhD,  science writer—

The benefits seen with Nexviazyme (avalglucosidase alfa) treatment in three people in Japan with Pompe disease matched those found among the overall patient population of two global clinical trials, a new case series analysis by researchers in that country has found. This trio of Japanese patients — two…

Higher-than-approved doses of enzyme replacement therapy, or ERT, normalized several features of infantile-onset Pompe disease (IOPD), including motor and heart function, in the first patient enrolled in a pilot study. The patient began high-dose ERT as a newborn, and eventually met all developmental milestones by age 7. With…

Scientists at Sanofi created digital counterparts of people with Pompe disease to support drug development and advance Pompe disease treatment. In a simulated clinical trial of digital twins with infantile-onset Pompe disease (IOPD), Sanofi’s Nexviazyme (avalglucosidase alfa), an enzyme replacement therapy, outperformed its first-generation Lumizyme (alglucosidase alfa)…

GlycoNOE, a non-invasive form of MRI, detected glycogen accumulation in the muscles of a Pompe disease mouse model, demonstrating its potential as a noninvasive tool to directly assess disease severity and treatment response in patients, according to a study. The approach “holds great potential to facilitate pre-clinical and clinical studies…

Among almost 3,000 people with symptoms consistent with Pompe disease, fewer than 40 were found to carry genetic mutations known to cause the rare condition and receive a confirmed diagnosis, according to the findings of a new study that researchers say highlights the challenges of diagnosing Pompe. Importantly, the…

Several metabolic processes in Pompe disease muscles are altered, according to a detailed examination of gene activity in muscle cells from adults with late-onset Pompe disease (LOPD). The changes, many of which occur in early disease progression, included a switch from energy production based on glucose to fat-like lipids…

People with Pompe disease examined for a study in Mexico carried a combination of GAA gene mutations associated with both infantile and adult-onset types of the disease, a finding the authors said may be related to the genetic diversity of the Mexican population. “Further population-wide studies are required to…

Treatment with Lumizyme (alglucosidase alfa) improved lung function in the short term and slowed lung function decline over the long term among people with late-onset Pompe disease (LOPD), according to a 13-year, real-world analysis. Patients with poor lung function before treatment saw the greatest early gains, while those…

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…

Long-term treatment with Pombiliti plus Opfolda (cipaglucosidase alfa/miglustat) safely improved motor function and stabilized or enhanced lung function in adults with late-onset Pompe disease (LOPD), according to newly published data from two clinical trials. Pompe disease is marked by a deficiency in an enzyme called acid alpha-glucosidase…