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When my husband and I started on this journey in 2006, I found it was easy to research the science of PGD, but what I really wanted to hear was the patient's perspective.

Monday, 25 July 2011

Duchenne research news from the UK

There have been some really exciting developments in Muscular dystrophy research.  The results of some research (known as Exon skipping trials) were published over the weekend.  The drug trials have shown that the level of dystrophin (the protein missing in boys with Duchenne) can be increased with no significant negative side effects.

Duchenne muscular dystrophy is a form of muscular dystrophy which mainly affects boys.  It progresses at a much faster rate than Myotonic dystrophy (which I have got).  Boys who have Duchenne usually will not be able to walk by the age of 12.  It is a life shortening illness.

On the way to work this morning, I heard Professor Katie Bushby on the Today program on radio 4, talking about the research.  Here is the short clip of her speaking.

And here is another clip from the same program of Mrs Claire Bosanquet speaking about her sons, Jack and Tom, who have Duchenne muscular dystrophy.  Jack and Tom have been involved in the trial and their mother thinks the drug may have prolonged Jack’s time on his feet and Tom wasn’t falling asleep as much. 

This really is fantastic news and offers hope to people with Duchenne muscular dystrophy and to those of us with other genetic conditions.  We are one step closer to a treatment!

Look at this for a great quote from Dr Marita Pohlschmidt, director of research at the muscular dystrophy campaign.  (I stole it from the muscular dystrophy campaign website).  It really demonstrates how exciting this news is.

“We have fought to find a treatment for this devastating condition for the past 50 years. Today we can say with real confidence that we're going to win that battle. Parents of these boys can have real hope for the future.”

Thanks to the muscular dystrophy campaign for all the money and time they have invested into the development of this therapy and thanks to everyone who has been helping raise money for them.

Further information:

Here is Professor Francesco Muntoni speaking on You tube about Duchenne muscular dystrophy and the trials.  The clip is 11 minutes long but gives a good explanation of the clinical trial, so is really interesting for those of us with muscular dystrophy.

Here is Jack and Tom in a TV clip on ITV news.

A BBC article

A Telegraph article with the same video as above. Thanks to my commenter for posting the link. 

Here is a TV clip from ITV news in the North East where much of the research took place. The clip is really interesting.  It shows Pascal Bailly who has Duchenne muscular dystrophy. Dr Marita Pohlschmidt, director of research at the muscular dystrophy campaign gives her comments and Professor Volker Straub talks about the research.

An update:

Next phase of Duchenne Exon skipping clinical trials has begun in America.  Higher doses will be tested and for a longer period of time.



  1. Daily Telegraph article as requested:-


  2. New research into Myotonic Dystrophy.
    New thread added on Talk MD.

  3. Amazing news! Off to watch the links.

    xxx Rianon


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