Several cellular processes, particularly those related to lysosome function and autophagy, are altered in the muscles of people with late-onset Pompe disease (LOPD), and supplementation with an amino acid as a regulator could be a “promising therapeutic approach,” according to a study. Levels of L-arginine, an amino acid that…
Research
Combining a symptom-based scoring tool with healthcare provider education may help identify patients who have an increased risk of having a missed diagnosis of late-onset Pompe disease (LOPD), a study in the U.S. shows. A LOPD diagnosis should be considered in patients with progressive muscle weakness and at least…
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…
Young patients with late-onset Pompe disease (LOPD) who do not yet show disease symptoms should be regularly monitored for timely identification of symptoms so that treatment can be started early, a study suggested. Current diagnostic procedures enable early diagnosis of LOPD even in pre-symptomatic stages, said the researchers, who…
Many adults with late-onset Pompe disease (LOPD) see their own health status as declining over time, with difficulty swallowing and speaking, and scoliosis (sideways curvature of the spine) being burdensome symptoms for those on enzyme replacement treatment (ERT) for more than 15 years, a survey study has found.
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)…
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…
Some individuals with limb-girdle muscular weakness, a hallmark symptom of a type of muscular dystrophy, may instead be found to have Pompe disease by genetic panel testing, according to a new study with data from more than 2,000 patients in 21 countries. That testing used next-generation sequencing, or NGS,…
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…
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