Steve Bryson, PhD,  science writer—

Locations where antibodies bind to enzyme replacement therapy (ERT) and potentially reduce its effectiveness in treating Pompe disease can now be identified using a drop of blood, a study reports. Knowing where anti-ERT antibodies bind may help find interventions to diminish the immune responses that generate them and also…

Orthodontic treatment successfully addressed speech and swallowing problems in a young girl with infantile-onset Pompe disease (IOPD), according to a case report from Italy. “The approach outlined in this paper serves as an illustrative example of orthodontic treatment for addressing speech and swallowing difficulties in patients with Pompe Disease,”…

A 43-year-old woman who was experiencing breathing problems and muscle weakness was eventually diagnosed with late-onset Pompe disease (LOPD) through genetic testing, highlighting the challenges of diagnosing the condition due to its rarity and nonspecific symptoms, according to a study. “It is important to consider late-onset Pompe disease in…

Researchers defined a threshold for improvements in lung function that adults with late-onset Pompe disease (LOPD) perceive as clinically meaningful when treated with enzyme replacement therapies. A study found that when thresholds were applied to data from the Phase 3 COMET study, more Pompe patients treated with the…

Switching from Lumizyme (alglucosidase alfa) to Pombiliti + Opfolda (cipaglucosidase alfa and miglustat) improved or stabilized motor function, muscle strength, and lung function in adults with late-onset Pompe disease (LOPD). That’s according to a new analysis from the Phase 3 PROPEL trial (NCT03729362) that also showed…

A new type of substrate reduction therapy composed of antisense oligonucleotides, or ASOs, effectively reduces glycogen accumulation in the skeletal muscles, or those attached to bones, of a Pompe disease mouse model, a study found. When combined with standard enzyme replacement therapy (ERT), which showed limited…

Involvement in the brain and spinal cord’s white matter is common in Pompe disease, particularly in the infantile-onset form, according to a review of published studies. Other affected parts of the brain and spinal cord, or central nervous system (CNS), were the gray matter and blood vessels in the…

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)…