Gene therapy of muscular dystrophy

K K Jain MD (Dr. Jain is a consultant in neurology and has no relevant financial relationships to disclose.)
Originally released December 16, 1997; last updated August 30, 2020; expires August 30, 2023


In this article, the author describes various methods of dystrophin gene transfer for 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 for consideration in the future are cell therapy, antisense approaches, and nonviral vectors for gene therapy of 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 (Monaco et al 1986). 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 (Hoffman et al 1987). 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 (Wells et al 1992). 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.

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