Muscular Dystrophy UK



Dear xxx I am contacting you regarding access to Duchenne muscular dystrophy treatment, Translarna. Duchenne muscular dystrophy, which almost exclusively affects boys, is a severe muscle-wasting condition caused by the lack of a muscle protein called dystrophin. The condition affects approximately 2,500 individuals in the UK, with around 100 new cases diagnosed each year. Eventually, the progression of the condition leads to serious muscle wasting in the heart and the lungs. Currently, few of those with the condition will live to see their thirtieth birthday. You could include details of your own connection to Duchenne muscular dystrophy, and its impact and you, your family and your friends. As you may be aware, in August 2014 the European Commission approved a decision of the European Medicines Agency (EMA) to grant a conditional marketing authorisation for a treatment for Duchenne muscular dystrophy known as Translarna. This is a landmark decision and Translarna will be the first ever drug, outside of a clinical trial, to treat an underlying genetic cause of Duchenne muscular dystrophy. Under the terms of the EMA conditional authorisation, Translarna can be used in boys aged five years and over who are still ambulant and who have Duchenne muscular dystrophy caused by a nonsense mutation - when a single letter of the DNA is changed which places a stop signal in the middle of the gene. The drug can encourage cells to ignore this premature stop signal and read all the genetic information. In trials with boys with Duchenne muscular dystrophy caused by a nonsense mutation, Translarna has been shown to slow the progression of the condition and appears to restore some dystrophin protein production in the muscles. It would keep boys walking for longer and potentially delay the devastating later stages of the condition. Early loss of ambulation is associated with a faster progression of the condition. Prolonging ambulation would therefore have a huge impact on quality of life for individuals living with Duchenne, and help relieve some of the huge burden that the disease places on them and their families. I understand that the Scottish Medicines Consortium (SMC) is assessing the drug, but as of yet no decision on its availability on the NHS in Scotland has been reached. I am sure you will appreciate that the uncertainty surrounding access in Scotland is having a profound influence on families who are desperate for access to this drug. All the while, a growing number of European nations are making the drug available in their country.As my local MSP, will you write to Professor Jonathan Fox, Chairman of the SMC, asking for assurances that the severity of Duchenne muscular dystrophy and the high unmet clinical need will be looked at sympathetically by the SMC, and that a positive recommendation will be made on Translarna? Will you also sign Motion S4M-15568 in the Scottish Parliament? I look forward to hearing from you soon. Yours sincerely, ................
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