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…
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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…
Switching from Lumizyme (alglucosidase alfa) to Pombiliti + Opfolda (a combination of cipaglucosidase alfa and miglustat) may help patients with late-onset Pompe disease move around more easily, suggesting a shift toward better quality of life, according to an exploratory analysis of Phase 3 data. The Phase…
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…
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 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…
Three genes related to the regulation of immune responses — GPNMB, CALML6, and TRIM7 — show abnormal activity in immune cells infiltrating the muscles of people with infantile-onset Pompe disease, according to a new study from researchers in China. All three were found to be associated with regulatory T-cells, a…
A two-step process used to screen thousands of people with suspected Pompe disease led to diagnoses of the rare genetic condition in more than 700 individuals across 50-plus nations, a new retrospective study reports. The researchers used both biochemical and genetic testing to analyze more than 30,000 blood-spot…