Results have been posted from a study of respiratory muscle strength in patients with late-onset Pompe disease (LOPD).
The observational study, which started on October 21, 2014, aimed to test the strength of the respiratory muscles in patients with LOPD who were treated or not treated with the experimental enzyme replacement therapy reveglucosidase alfa (BMN 701).
The trial, which was planned for 15 participants, recruited 8 patients with the disease, ages 18 to 65, of whom 7 completed the trial. All participants were white and 6 were male while 2 were female. A total of 7 participants were recruited in the United Kingdom, while 1 participant was recruited in the United States.
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The primary outcome measure of the study was maximal inspiratory pressure and the secondary outcome measure was maximal expiratory pressure.
According to the posted results, there was a decrease in maximal inspiratory and expiratory volume from baseline. No deaths or serious adverse events occurred during the trial.
The study sponsored by BioMarin Pharmaceutical was terminated early on June 22, 2016, due to a company decision not based on safety concerns.
BMN 701 was an enzyme replacement therapy being developed by BioMarin Pharmaceutical for the treatment of patients with Pompe disease. In June 2016, the company decided to discontinue the development of BMN 701, but stressed that the decision was not based on safety or efficacy concerns.
Pompe disease is a hereditary condition caused by a mutation in the gene encoding the acid alpha-glucosidase enzyme, the role of which is to cleave glycogen to form glucose. When the enzyme does not function properly due to the mutation, glycogen accumulates inside tissues causing damage.
Enzyme replacement therapy is the only disease-modifying therapy for the disease. There are several enzyme replacement therapies that have been approved by the US Food and Drug Administration to treat the disease.
A study of respiratory muscle strength in patients with late-onset Pompe disease (LOPD). US National Library of Medicine. Updated January 9, 2023. Accessed January 10, 2022.