Muscular dystrophy in the UK: progress and problems

31 August 2009

A UK trial of a form of gene therapy for Duchenne muscular dystrophy or DMD (see previous news) has reported promising results. The therapeutic AVI-4658 is an antisense oligonucleotide molecule, administered via intra-muscular injection, which binds to exon 51 of the dystrophin gene and allows production of the dystrophin protein to continue beyond deletions in the gene that normally cause premature truncation of protein production, resulting in a non-functional protein.

Researchers led by Professor Francesco Muntoni at the University College London Institute of Child Health reported that the treatments appeared safe and effectively induced the expression of dystrophin in the treated muscles; they plan now to look at the effects of intravenous administration of AVI-4658 (see Yahoo news report). Whilst this particular molecule would only be suitable for use in around 13% of DMD patients, similar therapeutics could be used for many more.

Meanwhile, a new report from a cross-party parliamentary group has found that disparities in access to specialist care for muscular dystrophy are resulting in serious inequalities including a difference in life expectancy of more than 12 years between the best and least-well served areas of the UK. This finding echoes that of a 2007 Muscular Dystrophy Campaign report (see previous news). Access to Specialist Neuromuscular Care: The Walton Report finds that the National Health Service (NHS) relies too heavily on charities to fund key worker posts, and calls for establishment of new specialised services for neuromuscular diseases, including named Muscular Dystrophy leads and a NICE clinical guideline for muscular dystrophy [Kmietowicz Z (2009) BMJ 339:b3436].

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