ArticleMolecular genetics and metabolism2011
Enhanced efficacy of enzyme replacement therapy in Pompe disease through mannose-6-phosphate receptor expression in skeletal muscle.
Article in Molecular genetics and metabolism, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01942590 (A Clinical Investigation of the Safety and Efficacy of Clenbuterol on Motor Function in Individuals With Late-onset Pompe Disease and Receiving Enzyme Replacement Therapy), which is not on this map. Cited by 45 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
A Clinical Investigation of the Safety and Efficacy of Clenbuterol on Motor Function in Individuals With Late-onset Pompe Disease and Receiving Enzyme Replacement Therapy
Who cites it
45 citing papers in PubMed, 1 synthesis or guideline pooled it, 70 citations in OpenAlex.
- Enzyme replacement therapy in late-onset Pompe disease: a systematic literature review.Journal of neurology · 2013Pooled it
- Correction of Biochemical Abnormalities and Improved Muscle Function in a Phase I/II Clinical Trial of Clenbuterol in Pompe Disease.Molecular therapy : the journal of the American Society of Gene Therapy · 2018Trial
- Effects of hypoxia and hyperoxia on exercise-induced metabolomic and transcriptomic profiles in equine skeletal muscle.The Journal of experimental biology · 2025Article
- Base editing rescues acid α-glucosidase function in infantile-onset Pompe disease patient-derived cells.Molecular therapy. Nucleic acids · 2024Article
- Small-molecule inhibition of glycogen synthase 1 for the treatment of Pompe disease and other glycogen storage disorders.Science translational medicine · 2024Article
- Hypertrophic Cardiomyopathy versus Storage Diseases with Myocardial Involvement.International journal of molecular sciences · 2023Review
- AAV-mediated delivery of secreted acid α-glucosidase with enhanced uptake corrects neuromuscular pathology in Pompe mice.JCI insight · 2023Article
- Phase I study of liver depot gene therapy in late-onset Pompe disease.Molecular therapy : the journal of the American Society of Gene Therapy · 2023Article
- A universal GlycoDesign for lysosomal replacement enzymes to improve circulation time and biodistribution.Frontiers in bioengineering and biotechnology · 2023Article
- The Clinical Management of Pompe Disease: A Pediatric Perspective.Children (Basel, Switzerland) · 2022Review
- Isogenic GAA-KO Murine Muscle Cell Lines Mimicking Severe Pompe Mutations as Preclinical Models for the Screening of Potential Gene Therapy Strategies.International journal of molecular sciences · 2022Article
- Efficacious Androgen Hormone Administration in Combination with Adeno-Associated Virus Vector-Mediated Gene Therapy in Female Mice with Pompe Disease.Human gene therapy · 2022Article
- To detect potential pathways and target genes in infantile Pompe patients using computational analysis.BioImpacts : BI · 2022Article
- Carnitine is a pharmacological allosteric chaperone of the human lysosomalJournal of enzyme inhibition and medicinal chemistry · 2021Article
- Cell type-selective targeted delivery of a recombinant lysosomal enzyme for enzyme therapies.Molecular therapy : the journal of the American Society of Gene Therapy · 2021Article
- Correction of oxidative stress enhances enzyme replacement therapy in Pompe disease.EMBO molecular medicine · 2021Article
- Three-dimensional tissue-engineered human skeletal muscle model of Pompe disease.Communications biology · 2021Article
- Pompe Disease: New Developments in an Old Lysosomal Storage Disorder.Biomolecules · 2020Review
- Evaluation of antihypertensive drugs in combination with enzyme replacement therapy in mice with Pompe disease.Molecular genetics and metabolism · 2020Article
- CNS-Targeting Therapies for Lysosomal Storage Diseases: Current Advances and Challenges.Frontiers in molecular biosciences · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 2 institutions in 2 countries.
Funding
Abstract
Enzyme replacement therapy (ERT) with acid α-glucosidase has become available for Pompe disease; however, the response of skeletal muscle, as opposed to the heart, has been attenuated. The poor response of skeletal muscle has been attributed to the low abundance of the cation-independent mannose-6-phosphate receptor (CI-MPR) in skeletal muscle compared to heart. To further understand the role of CI-MPR in Pompe disease, muscle-specific CI-MPR conditional knockout (KO) mice were crossed with GAA-KO (Pompe disease) mice. We evaluated the impact of CI-MPR-mediated uptake of GAA by evaluating ERT in CI-MPR-KO/GAA-KO (double KO) mice. The essential role of CI-MPR was emphasized by the lack of efficacy of ERT as demonstrated by markedly reduced biochemical correction of GAA deficiency and of glycogen accumulations in double KO mice, in comparison with the administration of the same therapeutic doses in GAA-KO mice. Clenbuterol, a selective β(2)-agonist, enhanced the CI-MPR expression in skeletal tissue and also increased efficacy from GAA therapy, thereby confirming the key role of CI-MPR with regard to enzyme replacement therapy in Pompe disease. Biochemical correction improved in both muscle and non-muscle tissues, indicating that therapy could be similarly enhanced in other lysosomal storage disorders. In summary, enhanced CI-MPR expression might improve the efficacy of enzyme replacement therapy in Pompe disease through enhancing receptor-mediated uptake of GAA.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.