ArticleMolecular therapy : the journal of the American Society of Gene Therapy2020
AAV-Mediated Gene Transfer Restores a Normal Muscle Transcriptome in a Canine Model of X-Linked Myotubular Myopathy.
Article in Molecular therapy : the journal of the American Society of Gene Therapy, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
What it found
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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.
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Who cites it
17 citing papers in PubMed.
- High-throughput transcriptome analyses from ASPIRO, a phase 1/2/3 study of gene replacement therapy for X-linked myotubular myopathy.American journal of human genetics · 2023Trial
- Voluntary running sustains the correction of inflammation-related gene expression conferred by AAV gene therapy in mdx mice.Molecular therapy. Advances · 2026Article
- Myosin inhibition partially rescues the myofiber proteome in X-linked myotubular myopathy.JCI insight · 2025Article
- Potential compensatory mechanisms preserving cardiac function in myotubular myopathy.Cellular and molecular life sciences : CMLS · 2024Article
- Congenital myopathies: pathophysiological mechanisms and promising therapies.Journal of translational medicine · 2024Review
- Mitochondrial Dynamics: Working with the Cytoskeleton and Intracellular Organelles to Mediate Mechanotransduction.Aging and disease · 2023Review
- Serotype-specific transduction of canine joint tissue explants and cultured monolayers by self-complementary adeno-associated viral vectors.Gene therapy · 2023Article
- MYTHO is a novel regulator of skeletal muscle autophagy and integrity.Nature communications · 2023Article
- Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review.JAMA neurology · 2022Review
- Common Pathogenic Mechanisms in Centronuclear and Myotubular Myopathies and Latest Treatment Advances.International journal of molecular sciences · 2021Review
- Multi-omics comparisons of different forms of centronuclear myopathies and the effects of several therapeutic strategies.Molecular therapy : the journal of the American Society of Gene Therapy · 2021Article
- Genetic diseases in the omics era.Molecular therapy : the journal of the American Society of Gene Therapy · 2021Article
- Molecular correction of Duchenne muscular dystrophy by splice modulation and gene editing.RNA biology · 2021Review
- Of rAAV and Men: From Genetic Neuromuscular Disorder Efficacy and Toxicity Preclinical Studies to Clinical Trials and Back.Journal of personalized medicine · 2020Review
- rAAV-related therapy fully rescues myonuclear and myofilament function in X-linked myotubular myopathy.Acta neuropathologica communications · 2020Article
- Myostatin: a Circulating Biomarker Correlating with Disease in Myotubular Myopathy Mice and Patients.Molecular therapy. Methods & clinical development · 2020Article
- Whole-genome resequencing using genomic DNA extracted from horsehair roots for gene-doping control in horse sports.Journal of equine science · 2020Article
Corrections and comments
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Authors and funding
11 authors.
Funding
Abstract
Multiple clinical trials employing recombinant adeno-associated viral (rAAV) vectors have been initiated for neuromuscular disorders, including Duchenne and limb-girdle muscular dystrophies, spinal muscular atrophy, and recently X-linked myotubular myopathy (XLMTM). Our previous work on a canine model of XLMTM showed that a single rAAV8-cMTM1 systemic infusion corrected structural abnormalities within the muscle and restored contractile function, with affected dogs surviving more than 4 years post injection. This remarkable therapeutic efficacy presents a unique opportunity to identify the downstream molecular drivers of XLMTM pathology and to what extent the whole muscle transcriptome is restored to normal after gene transfer. Herein, RNA-sequencing was used to examine the transcriptomes of the Biceps femoris and Vastus lateralis in a previously described canine cohort that showed dose-dependent clinical improvements after rAAV8-cMTM1 gene transfer. Our analysis confirmed several dysregulated genes previously observed in XLMTM mice but also identified transcripts linked to XLMTM pathology. We demonstrated XLMTM transcriptome remodeling and dose-dependent normalization of gene expression after gene transfer and created metrics to pinpoint potential biomarkers of disease progression and correction.
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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.