New medicines to slow progression of Duchenne muscular dystrophy
Every year in the UK around 100 boys are diagnosed with Duchenne muscular dystrophy. Most lose their ability to walk between the ages of 10 and 14 years. They will eventually become paralysed and many lose their lives by their late twenties. Although this cruel disease is incurable, new treatments to slow down disease progression offer vital hope to families.
Duchenne is caused by faults in a gene which plays a vital role in making muscles work properly. This gene should produce an essential protein called dystrophin. It is a lack of dystrophin that causes the relentless muscle wasting and weakening faced by boys with Duchenne.
In 1997, Professor George Dickson investigated whether a new type of gene therapy drug could be developed to restore some function to the faulty dystrophin gene and thereby slow disease progression. The work, which was at its earliest stages, showed that this type of treatment could work in the laboratory.
This research contributed to the development of a new class of medicines which are now, finally, being offered to boys with Duchenne in clinical trials. It is estimated that 80 per cent of boys with Duchenne could eventually benefit from these new treatments to slow disease progression.
Professor Dickson says: "The success of the original drug development and the clinical trials derives at least in part from the early studies that Action supported. It all has to start somewhere and I think it's a tremendous legacy for the charity to be proud of."
Today, Action continues to fund research into Duchenne. Researchers, led by Professor Volker Straub, of Newcastle University, are looking at alternative treatments to reduce the calcium overload which occurs in the muscles of boys and young men with Duchenne – this could increase muscle strength and slow down disease progression with the hope of improving the quality and length of life.