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Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease.

Publication ,  Journal Article
Chien, Y-H; Hwu, W-L; Lee, N-C; Tsai, F-J; Koeberl, DD; Tsai, W-H; Chiu, P-C; Chang, C-L
Published in: Mol Genet Metab Rep
June 2017

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 One patient was actively withdrawn from the trial because of poor compliance.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.

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Published In

Mol Genet Metab Rep

DOI

ISSN

2214-4269

Publication Date

June 2017

Volume

11

Start / End Page

31 / 35

Location

United States

Related Subject Headings

  • 3202 Clinical sciences
  • 3105 Genetics
  • 0604 Genetics
  • 0601 Biochemistry and Cell Biology
 

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Chien, Y.-H., Hwu, W.-L., Lee, N.-C., Tsai, F.-J., Koeberl, D. D., Tsai, W.-H., … Chang, C.-L. (2017). Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease. Mol Genet Metab Rep, 11, 31–35. https://doi.org/10.1016/j.ymgmr.2017.04.004
Chien, Yin-Hsiu, Wuh-Liang Hwu, Ni-Chung Lee, Fuu-Jen Tsai, Dwight D. Koeberl, Wen-Hui Tsai, Pao-Chin Chiu, and Chaw-Liang Chang. “Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease.Mol Genet Metab Rep 11 (June 2017): 31–35. https://doi.org/10.1016/j.ymgmr.2017.04.004.
Chien Y-H, Hwu W-L, Lee N-C, Tsai F-J, Koeberl DD, Tsai W-H, et al. Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease. Mol Genet Metab Rep. 2017 Jun;11:31–5.
Chien, Yin-Hsiu, et al. “Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease.Mol Genet Metab Rep, vol. 11, June 2017, pp. 31–35. Pubmed, doi:10.1016/j.ymgmr.2017.04.004.
Chien Y-H, Hwu W-L, Lee N-C, Tsai F-J, Koeberl DD, Tsai W-H, Chiu P-C, Chang C-L. Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease. Mol Genet Metab Rep. 2017 Jun;11:31–35.
Journal cover image

Published In

Mol Genet Metab Rep

DOI

ISSN

2214-4269

Publication Date

June 2017

Volume

11

Start / End Page

31 / 35

Location

United States

Related Subject Headings

  • 3202 Clinical sciences
  • 3105 Genetics
  • 0604 Genetics
  • 0601 Biochemistry and Cell Biology