Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease
Journal
Molecular Genetics and Metabolism Reports
Journal Volume
11
Pages
31-35
Date Issued
2017
Author(s)
Abstract
Background Early initiation of enzyme replacement therapy (ERT) with recombinant human acid alpha-glucosidase is an effective treatment for patients with infantile-onset Pompe disease (IOPD) but cannot prevent a slow progression of myopathy. Albuterol has been shown to be helpful in adult patients with Pompe disease, and therefore, we administered an open-label adjunctive therapy with albuterol in IOPD patients undergoing ERT. Methods Fourteen patients, aged 2 to 12 years, were enrolled in this study; all of them had a disease onset before 12 months of life, and 13 of them were ambulatory because of early initiation of ERT. All patients received albuterol (also referred to as salbutamol) 12 mg daily for 26 weeks. The outcome measurements included a 6-minute walk test, four-stair climb test (SCT), the standing/walking/running/jumping domains of Gross Motor Function Measure-88, speech quality, serum creatine kinase, and urinary glucose tetrasaccharide. Outcome and safety measurements were evaluated at baseline, and at 1, 3, and 6 months (26 weeks) after entering the trial. Results After a period of 26 weeks, among the 12 patients who were able to complete the SCT, the median time needed decreased by 22% (p = 0.034). Other parameters inconsistently improved in a variety of individuals. Eleven adverse events, including nausea, urinary frequency, and tachycardia, were potentially related to the study drug, but all were mild and disappeared after a brief drug withdrawal. One patient was actively withdrawn from the trial because of poor compliance. Conclusions The results of our study suggest that albuterol showed a good safety profile as an adjunctive treatment in our IOPD cohort, although the benefits are limited. ? 2017 The Authors
SDGs
Other Subjects
creatine kinase; recombinant glucan 1,4 alpha glucosidase; salbutamol; adjuvant therapy; adverse outcome; Article; child; clinical article; drug safety; drug withdrawal; elevated blood pressure; enzyme replacement; flushing; glycogen storage disease type 2; heart rate; human; lung function; medication compliance; nausea; open study; side effect; sinus tachycardia; six minute walk test; stair climbing; tachycardia; treatment duration; treatment outcome; urinary dysfunction; urinary frequency
Publisher
Elsevier Inc.
Type
journal article