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Muscular dystrophy screening should be NHS priority, says expert

13 June 2011
Appeared in BioNews 611

The NHS must be prepared to screen every newborn baby for Duchenne muscular dystrophy (DMD) – the most severe form of muscular dystrophy – in three years time, says a leading UK geneticist who explains that promising treatments are close to becoming a reality.

Professor Dame Kay Davies from the University of Oxford believes an NHS screening programme is essential to identify babies that will benefit from new therapies, currently at advanced clinical trial stages, that could slow or even halt the disease’s progression.

'Anyone on these therapies is going to have to be treated more or less from birth to get maximum benefit', she said at The Times Cheltenham Science Festival. 'I'm not sure we’re quite there yet but we need to be ready to introduce a screening programme the moment that these treatments start to come through... that means piloting and planning now'.

DMD is caused by a genetic mutation that prevents production of the essential muscle protein dystrophin. The most advanced of the potential treatments in development uses an injectable drug to tell the body not to read the mutated part of the gene. Another attempts to stimulate a second muscle protein called utrophin, thereby compensating for the absence of dystrophin.

Furthermore, the condition is almost exclusively seen in boys since the mutation occurs on the X chromosome, and the second X chromosome possessed by girls makes up for the faulty copy.

While the UK does not currently operate screening for DMD as part of the heel-prick test done at birth, Wales has run a DMD screening programme for the last 21 years.

'The experience from Wales is that some families find the screening very helpful, while others say it robbed them of important time when they didn’t know their children were affected', said Dr Marita Pohlschmidt, director of research at the Muscular Dystrophy Campaign.

'Once a treatment is available, however, it's essential that screening is implemented straightaway, and as it will take some time to develop a programme we need to start working on getting it right now', she said.

NHS warned over muscular dystrophy screening
Times |  10 June 2011
18 November 2019 - by Charlotte Spicer 
A gene therapy trial for Duchenne muscular dystrophy (DMD) has been halted after a patient experienced serious side effects...
11 January 2016 - by Jenny Sharpe 
Scientists in the USA have shown that the genome-editing technique CRISPR can improve muscle function in a mouse model of Duchenne muscular dystrophy...
23 September 2013 - by Dr Anna Cauldwell 
A highly anticipated experimental treatment for the genetic condition Duchenne Muscular Dystrophy has failed in a key test of its effectiveness in a critical phase III clinical trial.
9 September 2013 - by James Brooks 
A parliamentary report has recommended a ring-fenced fund to ensure access to 'low volume, high cost' treatments for rare diseases...
1 July 2013 - by Simon Hazelwood-Smith 
Scientists have for the first time been able to switch on and off the effects of a genetic disease, myotonic dystrophy, in human muscle tissue...
15 November 2009 - by Alison Cranage 
Research published in the journal Science Translational Medicine last week shows gene therapy can improve muscle size and strength in monkeys. The technique holds promise as a therapy for several neuromuscular disorders, and researchers hope that clinical trials will start next year....
9 November 2009 - by Dr Will Fletcher 
The UK National Screening Committee is considering plans to screen newborn babies for a greater number of rare conditions. Currently, on a newborn's fifth day, a single spot of blood is taken from their heel, and they are screened for five conditions including sickle-cell disorders (SCD) and cystic fibrosis (CF). Parents then receive the results of the tests around eight weeks later. This lags behind some areas of Europe where they test for 10 or more conditions, and some American states that...
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....
9 March 2009 - by Rosie Beauchamp 
It was reported this week in the journal Stem Cell that a group of researchers from the University of New South Wales, Australia, have made a major breakthrough in the success of regrowing damaged muscle tissue using adult stem cells. Previous research carried out at the University...
16 June 2008 - by Dr Philippa Brice 
Antenatal care in the UK includes various forms of screening intended to assess the health of the mother and fetus; at present this includes the use of ultrasound imaging to check on physical development of the fetus, and serum screening using maternal blood to determine blood group, identify the presence...
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