LOPD

Fatigue, pain, muscle weakness, and breathing difficulties are the most common and highly disabling symptoms of late-onset Pompe disease (LOPD), according to a study that combined data collected from published literature, expert clinician interviews, and patient interviews. In addition, patients reported that mobility problems had the most impact on…

The type of genetic mutation carried by a Pompe disease patient appears to predict whether the disease is infantile- or late-onset, according to a study. However, newly diagnosed patients should still undergo complete genetic, cardiac, and neurological tests, scientists stated. The study, “Phenotypic implications of pathogenic…

Spark Therapeutics has dosed the first patient in the Phase 1/2 RESOLUTE clinical trial of SPK-3006, an experimental gene therapy for people with late-onset Pompe disease (LOPD). “Dosing the first participant in the Phase 1/2 RESOLUTE trial of investigational SPK-3006 for late-onset Pompe disease is an important milestone and…

Deferoxamine, a medication normally used to remove excess iron and aluminum from the body, can counteract the effects of a disease-causing genetic variant often found in people with late-onset Pompe disease (LOPD). These findings highlight the potential of drug repurposing for the development of new therapies for LOPD,…

Avalglucosidase alfa, an investigational next-generation enzyme replacement therapy (ERT), leads to clinically meaningful improvements in respiratory muscle strength and mobility in children and adults with late-onset Pompe disease (LOPD), according to top-line data from a Phase 3 trial. The findings will be the foundation for applications that…

Increased awareness of late-onset Pompe disease (LOPD) is crucial to shorten the delay in diagnosis and start appropriate treatment as early as possible, a study says. The study, “Late-onset Pompe disease (LOPD) in Belgium: clinical characteristics and outcome measures,” was published in the…

People with late-onset Pompe disease (LOPD) show significant increases in the amount of muscle replaced by fat while on treatment, which is linked to reduced muscle strength and motor function, according to a new study.  These findings support the use of muscle imaging to assess…

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, “…

Magnetic resonance imaging (MRI) seems to be an effective and efficient tool to evaluate muscular status and monitor patients with late-onset Pompe disease (LOPD), according to researchers. Their study, “Quantitative muscle MRI to follow up late onset Pompe patients: a prospective study,” was published in the…