Combining stem cells and exon skipping strategy to treat muscular dystrophy

Muscular dystrophies are characterized by primary wasting of skeletal muscle. Mutations in the dystrophin gene cause hereditary muscular diseases such as Becker muscular dystrophy (BMD) and Duchenne muscular dystrophy (DMD), the most severe form. Characterization of the dystrophin gene and evidence that different types of adult stem cells are capable of muscle regeneration has lead to the development of potential gene therapy and stem cell treatments for DMD.

The main goal is to combine gene modification strategies with cell-mediated therapies. This approach could permit autologous transplantation of cells, minimizing the risk of implant rejection.

The combination of gene and stem cell approaches seems to be most promising, particularly intra-arterial injections of the patient's own stem cells transduced by antisense oligonucleotide technology. This approach should offer the chance to distribute the autologous corrected stem cells to the whole body musculature providing a clinical benefit for dystrophic patients.