Reduced activity of the COL13A1 gene, which codes for a protein involved in the communication between nerves and muscles, may…
Articles by Andrea Lobo, PhD
Gene and enzyme replacement therapies for Pompe disease improved breathing and limb strength in a mouse model of the…
A desensitization protocol allowed doctors to successfully treat an infant with classic infantile-onset Pompe disease (IOPD) who developed an…
A woman in Canada with atypical and slowly progressive onset of muscle weakness affecting her eyelids, face, and throat muscles…
Several cellular processes, particularly those related to lysosome function and autophagy, are altered in the muscles of people with…
Combining a symptom-based scoring tool with healthcare provider education may help identify patients who have an increased risk of having…
The U.S. Food and Drug Administration (FDA) has cleared Aro Biotherapeutics to conduct a Phase 1 clinical trial to…
Young patients with late-onset Pompe disease (LOPD) who do not yet show disease symptoms should be regularly monitored for…
Last year, the team at Pompe Disease News brought our readers news on the most recent scientific advances, treatment…
Three genes related to the regulation of immune responses — GPNMB, CALML6, and TRIM7 — show abnormal activity in immune…