Inherited neuromuscular diseases are a group of disorders that affect skeletal muscle or neuronal control of the skeletal muscle. Due to the incredible clinical and genetic heterogeneity of these disorders, very few curative therapies are available. Affected patients often require lifetime treatments to manage their symptoms and a great number of them succumb to premature deaths due to respiratory failures. Recent development in gene therapy, especially Adeno-Associated Virus (AAV) vectors provide exciting avenues for curing monogenic neuromuscular diseases by delivering a functional copy of the defective gene into the musculature. This review covers recent progress made to implement AAV vectors as a viable treatment option for inherited neuromuscular diseases including advancements in engineering technologies for AAV vector optimization, promising results from preclinical animal studies and clinical trials. Current obstacles to clinically translate AAV gene replacement therapy are further discussed.
In conclusion, AAV-based gene therapy serves as an ideal treatment to correct the genetic defects underlying inherited neuromuscular diseases with recent regulatory approvals as the basic and translational science proves safe and effective. Further understanding of AAV vector mechanisms and advancements in capsid engineering are needed to build a stronger foundation to establish AAV vector-mediated gene replacement therapy as a standard treatment option clinically to treat inherited neuromuscular diseases.
| Identifer | oai:union.ndltd.org:bu.edu/oai:open.bu.edu:2144/43726 |
| Date | 28 January 2022 |
| Creators | Shang, Qifan |
| Contributors | Levy, Simon, Gupta, Vandana |
| Source Sets | Boston University |
| Language | en_US |
| Detected Language | English |
| Type | Thesis/Dissertation |
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