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New drug offers hope for Duchenne muscular dystrophy

30 April 2007
Appeared in BioNews 405

A new drug is being trialled in humans which has been able to cure Duchenne muscular dystrophy (DMD) in mice with symptoms of the disease. The drug, named PTC124, has been developed by scientists working at the University of Massachusetts Medical School and Pennsylvania University Medical School in conjunction with biotech company PTC Therapeutics Inc. Muscular dystrophy (MD) is the name for a group of genetic disorders in which muscles gradually waste over time. Mobility is lost and affected individuals have a reduced life span. There is currently no cure. DMD is the most severe and commonest form of the dystrophies - around 100 boys are born with the condition each year in the UK.

People with DMD have a mutation in the gene which codes for the dystrophin protein. About 15 per cent of patients have a type of mutation that results in a premature 'stop' signal. As the dystrophin gene is translated into protein, the incorrect signal prematurely stops the protein production and resulting in a non-functional version. In the mouse model, PTC124 was able to override the mutation and allow full-length copies of dystrophin to be produced. The drug did not stop correct stop signals in the genetic code being read. Similar 'nonsense' mutations are found in up to 1800 other genetic diseases that may also be treatable with the new drug. Human trials are currently underway in both DMD and cystic fibrosis.

Lead researcher Lee Sweeney of the University of Pennsylvania said, 'This new class of treatment has the potential to help a large number of patients with different genetic diseases that have the same type of mutation...Enough dystrophin accumulated in the muscles of the MD mice so that we could no longer find defects in the muscles when we examined them. For all intents and purposes the disease was corrected by treatment with PTC124'. It is thought that the results of the human trials will take some years. The work is published early online in the Journal Nature.

Drug 'mends' muscular dystrophy
BBC News Online |  22 April 2007
Drug to work on cure for genetic diseases
Herald Sun |  24 April 2007
Muscle restoration in an animal model of Duchenne muscular dystrophy |  24 April 2007
25 October 2009 - by Dr Marianne Kennedy 
A potential new gene therapy for Duchenne Muscular Dystrophy (DMD) is now set to enter clinical trials after encouraging results in mice. The multinational team of scientists, publishing their findings in the journal Molecular Therapy, demonstrated that the therapy dramatically prevented severe muscle deterioration and extended the lifespan of mice with symptoms of DMD....
15 September 2008 - by Ailsa Stevens 
BioNews reporting from the British Society for Human Genetics (BSHG) annual conference in York:By Ailsa Taylor:A new investigational drug, potentially able to treat up to 2400 different genetic disorders, has been shown to induce production of a vital protein missing in patients with cystic fibrosis, the UK's most...
27 January 2008 - by Dr Rebecca Robey 
Researchers at the University of Texas Southwestern Medical Centre have developed a new technique to treat the symptoms of muscular dystrophy using embryonic stem (ES) cells. The group, reporting in the February 2008 issue of Nature Medicine, successfully manipulated mouse ES cells to transform them into muscle-forming...
7 January 2008 - by Ailsa Stevens 
An experimental treatment for boys with the inherited muscle wasting disease Duchene Muscular Dystrophy (DMD) has showed promise in human safety trials, according to a study published in the New England Journal of Medicine. In the first ever trial on humans, the new drug was shown to...
24 September 2007 - by Ailsa Stevens 
The first trial of a new treatment for Duchenne muscular dystrophy (DMD) will start later this year in the UK. The treatment, which has been developed by using human cells and mice experiments, hopes to overcome the effects of the genetic defect that causes the muscle wasting...
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