The DOI matches its Crossref record; 8 of the 8 references it cites were found in a registry or an index.
Current Status of Pharmaceutical and Genetic Therapeutic Approaches to Treat DMD
Open accessAbstract
Duchenne muscular dystrophy (DMD) is a genetic disease affecting about one in every 3,500 boys. This X-linked pathology is due to the absence of dystrophin in muscle fibers. This lack of dystrophin leads to the progressive muscle degeneration that is often responsible for the death of the DMD patients during the third decade of their life. There are currently no curative treatments for this disease but different therapeutic approaches are being studied. Gene therapy consists of introducing a transgene coding for full-length or a truncated version of dystrophin complementary DNA (cDNA) in muscles, whereas pharmaceutical therapy includes the use of chemical/biochemical substances to restore dystrophin expression or alleviate the DMD phenotype. Over the past years, many potential drugs were explored. This led to several clinical trials for gentamicin and ataluren (PTC124) allowing stop codon read-through. An alternative approach is to induce the expression of an internally deleted, partially functional dystrophin protein through exon skipping. The vectors and the methods used in gene therapy have been continually improving in order to obtain greater encapsidation capacity and better transduction efficiency. The most promising experimental approaches using pharmaceutical and gene therapies are reviewed in this article.
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Cites
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A serious adverse event after successful gene therapy for X-linked severe combined immunodeficiency
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Dystrophin Immunity in Duchenne's Muscular Dystrophy
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Self-citationVery mild muscular dystrophy associated with the deletion of 46% of dystrophin
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Self-citationSystemic delivery of genes to striated muscles using adeno-associated viral vectors
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Cited by
Li, H. L., Fujimoto, N., Sasakawa, N., Shirai, S., Ohkame, T., Sakuma, T., Tanaka, M., Amano, N., Watanabe, A., Sakurai, H., et al. (2015) · Stem Cell Reports · doi:10.1016/j.stemcr.2014.10.013 · Cited by 471
Ousterout, D. G., Kabadi, A. M., Thakore, P. I., Majoros, W. H., Reddy, T. E., & Gersbach, C. A. (2015) · Nature Communications · doi:10.1038/ncomms7244 · Cited by 470
McDonald, C. M., Campbell, C., Torricelli, R. E., Finkel, R. S., Flanigan, K. M., Goemans, N., Heydemann, P., Kaminska, A., Kirschner, J., Muntoni, F., et al. (2017) · The Lancet · doi:10.1016/s0140-6736(17)31611-2 · Cited by 452
Phase 1 Gene Therapy for Duchenne Muscular Dystrophy Using a Translational Optimized AAV Vector
Bowles, D. E., McPhee, S. W., Li, C., Gray, S. J., Samulski, J. J., Camp, A. S., Li, J., Wang, B., Monahan, P. E., Rabinowitz, J. E., et al. (2012) · Molecular Therapy · doi:10.1038/mt.2011.237 · Cited by 400
Self-citationDystrophin-Deficient Cardiomyopathy
Kamdar, F., & Garry, D. J. (2016) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2016.02.081 · Cited by 384
Metadata
- Authors
- Pichavant, C., Aartsma-Rus, A., Clemens, P. R., Davies, K. E., Dickson, G., Takeda, S., Wilton, S. D., Wolff, J. A., Wooddell, C. I., Xiao, X., & Tremblay, J. P.
- Venue
- Molecular Therapy
- Publisher
- Elsevier BV
- Published
- 2011-05
- Volume
- 19
- Issue
- 5
- Pages
- 830-840
- ISSN
- 1525-0016 (ISSN-L)
- OpenAlex
- W2080417224
- Cited by
- 193
- References
- 8
- FWCI
- 10.70
- Type
- journal article
- Language
- en
- Open access
- hybrid
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