Correction of Biochemical Abnormalities and Improved Muscle Function in a Phase I/II Clinical Trial of Clenbuterol in Pompe Disease
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This 52-week, phase I/II double-blind, randomized, placebo-controlled study investigated the novel use of clenbuterol in late-onset Pompe disease (LOPD) stably treated with ERT. Eleven of thirteen participants completed the study. No serious adverse events were related to clenbuterol, and transient minor adverse events included mild elevations of creatine kinase, muscle spasms, and tremors. At week 52, the 6-min walk test distance increased by a mean of 16 m (p = 0.08), or a mean of 3% of predicted performance (p = 0.03), and the maximum inspiratory pressure increased 8% (p = 0.003) for the clenbuterol group. The quick motor function test score improved by a mean of seven points (p = 0.007); and the gait, stairs, gower, chair test improved by a mean of two points (p = 0.004). Clenbuterol decreased glycogen content in the vastus lateralis by 50% at week 52. Transcriptome analysis revealed more normal muscle gene expression for 38 of 44 genes related to Pompe disease following clenbuterol. The placebo group demonstrated no significant changes over the course of the study. This study provides initial evidence for safety and efficacy of adjunctive clenbuterol in patients with LOPD (NCT01942590).
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Recent clinical trials on Pompe patients with clenbuterol did not report any serious adverse events.
“However, recent clinical trials on Pompe patients (lysosomal storage diseases disorder) with clenbuterol did not report any serious adverse events99.”
From Mechanisms of muscle atrophy and hypertrophy: implications in health and disease (2021) · cites this paper as [99]
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Mechanisms of muscle atrophy and hypertrophy: implications in health and disease
Sartori, R., Romanello, V., & Sandri, M. (2021) · Nature Communications · doi:10.1038/s41467-020-20123-1 · Cited by 940 · see citing works
- Authors
- Koeberl, D. D., Case, L. E., Smith, E. C., Walters, C., Han, S.-O., Li, Y., Chen, W., Hornik, C. P., Huffman, K. M., Kraus, W. E., Thurberg, B. L., Corcoran, D. L., Bali, D., Bursac, N., & Kishnani, P. S.
- Affiliations
- Duke University (US)
- Corresponding author
- Koeberl, Dwight D.
- ORCID
- Venue
- Molecular Therapy
- Publisher
- Elsevier BV
- Published
- 2018-09
- Volume
- 26
- Issue
- 9
- Pages
- 2304-2314
- ISSN
- 1525-0016 (ISSN-L)
- PMC
- PMC6127508
- OpenAlex
- W2872930858
- Cited by
- 33
- References
- 47
- Citations by year
- 2025: 5 · 2024: 3 · 2023: 6 · 2022: 4 · 2021: 4 · 2020: 3 · 2019: 7 · 2018: 1
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Molecular Therapy (publishedVersion, cc-by-nc-nd)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Alice and Y.-T. Chen Pediatric Genetics and Genomics Center (R01-FD004364)
- Food and Drug Administration (R01-AR065873)
- National Institute of Arthritis and Musculoskeletal and Skin Diseases
- Roivant Rare Diseases
- Topics
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Health Sciences › Medicine › Rheumatology › Glycogen Storage Diseases and Myoclonus
- Health Sciences › Medicine › Pathology and Forensic Medicine › Biomedical Research and Pathophysiology
- Keywords
- clenbuterol, Pompe disease, late-onset Pompe disease, enzyme replacement therapy, adjunctive therapy, muscle glycogen, vastus lateralis, muscle function, 6-minute walk test, maximal inspiratory pressure, muscle gene expression, gene expression profiling, creatine kinase elevation, drug safety and efficacy
- MeSH terms
- Adult, Aged, Clenbuterol, Double-Blind Method, Female, Glycogen, Glycogen Storage Disease Type II, Humans, Male, Middle Aged, Muscle, Skeletal, Quadriceps Muscle
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