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MDA Clinical & Scientific Conference starts on March 16

Note: This story has been updated March 6, 2025, to correct a quote from Mindy Henderson, MDA vice president of disability outreach and empowerment. The Muscular Dystrophy Association (MDA) is once again hosting its annual gathering, the MDA Clinical & Scientific Conference. The 2025 event will take place…

Study IDs amino acid supplement as potential LOPD therapy

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…

Symptom-based tool may help ID missed LOPD diagnoses

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…

Phase 1b trial of ABX1100 with late-onset Pompe disease OK’d

The U.S. Food and Drug Administration (FDA) has cleared Aro Biotherapeutics to conduct a Phase 1 clinical trial to test ABX1100, its experimental substrate reduction therapy, in people with late-onset Pompe disease (LOPD). The clearance of Aro’s investigational new drug (IND) application comes as the company is…

Late-onset Pompe patients should be watched for symptoms: Study

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…

Holistic approach may better manage LOPD symptoms: Study

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.

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)…