News

Scientists create digital twins to advance Pompe disease treatment

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)…

Top 10 Pompe disease news stories of 2024

Last year, the team at Pompe Disease News brought our readers news on the most recent scientific advances, treatment progresses, and clinical trials for Pompe disease. Here are the 10 most read stories we published on Pompe disease during 2024. No. 10 – Switch from Lumizyme to Nexviazyme…

Glycogen-measuring MRI shows promise in Pompe mouse model

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…

Study findings highlight challenges of diagnosing Pompe disease

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…

Pombiliti-Opfolda combo may overcome challenges of older ERTs

Pombiliti plus Opfolda (cipaglucosidase alfa/miglustat) may offer significant advantages over earlier forms of enzyme replacement therapy (ERT) for Pompe disease, according to an analysis of preclinical and clinical data. Researchers reviewed all available data about the combination therapy’s mechanism and therapeutic effects and determined that it can overcome challenges…