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  • Updated 08.24.2021
  • Released 12.16.1997
  • Expires For CME 08.24.2024

Gene therapy of muscular dystrophy



Various methods of dystrophin gene transfer have been applied for treatment of muscular dystrophy. Several viral vectors, notably the adenoviral vector, have been used, and modifications have been made to accommodate the large dystrophin gene. Various routes of administration have been tested; a clinical trial of intramuscular plasmid is currently in progress and appears to be promising. Other approaches are cell therapy, antisense approaches, and nonviral vectors for gene therapy of muscular dystrophy.

Key points

• There are several methods of gene therapy for muscular dystrophy including viral vector-mediated gene transfer, cell/gene therapy, gene editing, antisense approaches, and nonviral vectors.

• Viral vectors such as adenoviral vectors have been used and several modifications have been made to accommodate the large dystrophin gene including microgene versions.

• A few exon-skipping antisense oligonucleotides have been approved for treatment of Duchenne muscular dystrophy.

Historical note and terminology

This article will discuss gene therapy for Duchenne muscular dystrophy, the most common of the various genetic muscular disorders. The mutated gene that causes Duchenne muscular dystrophy was discovered in 1986 (25). Dystrophin, the protein product of the Duchenne muscular dystrophy gene that forms the basis of future gene therapy of this disorder, was identified in 1987 (18). In 1992, correction of myopathy was carried out in a transgenic mouse model of Duchenne muscular dystrophy by germline gene transfer of human dystrophin using a retroviral vector (35). Other muscular dystrophies are also being investigated for feasibility of gene therapy. Considerable progress was made during 2004 to 2006 in the efficient systemic delivery of viral and nonviral gene transfer agents and antisense oligonucleotides for gene therapy of Duchenne muscular dystrophy, which are in clinical trials. Eteplirsen, an antisense-mediated exon skipping therapy for mutation suppression, has been approved by the FDA for Duchenne muscular dystrophy, followed by other therapies in this category.

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