When used in combination with enzyme replacement therapy, albuterol improves lung and motor function in patients with late-onset Pompe disease (LOPD), a Phase 1/2 trial showed. Trial findings were reported in the study, “Improved muscle function in a phase I/II clinical trial of albuterol…
People with late-onset Pompe disease (LOPD) can develop damage to the nerves that run throughout their body, a recent case report about four patients shows. Such nerve damage in LOPD patients can worsen disability and needs special attention and care, such as physiotherapy. The report with those findings, “…
Muscle strength and function measurements in people with late-onset Pompe disease (LOPD) correlate with whole-body magnetic resonance imaging (WBMRI) results, a new study suggests. The study, “Whole‐body MRI in Late‐onset Pompe Disease: Clinical utility and correlation with functional measures,” was published in the Journal of Inherited Metabolic…
A molecular “tag” to improve distribution of the acid-alpha glucosidase (GAA) protein within cells enhanced the efficacy of gene therapy in a mouse model of Pompe disease, a recent study suggests. The study, titled “AAV Gene Therapy Utilizing Glycosylation-Independent Lysosomal Targeting Tagged GAA in the…
The use of enzyme replacement therapy is safe and effective in Japanese people living with Pompe disease, a new study shows. Titled “Long-Term Observation of the Safety and Effectiveness of Enzyme Replacement Therapy in Japanese Patients with Pompe Disease: Results From the Post-marketing Surveillance,” the study…
A new study reports the genetic and clinical characteristics of 113 U.S. children who have Pompe disease, the largest such group that has been uniformly assessed in this manner. In addition to revealing four previously unreported disease-causing mutations, the data may help researchers and clinicians better understand the associations between…
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