27 May 2014
The first drug for the treatment of inherited disease Duchenne muscular dystrophy (DMD) has been approved for use by the European Medicines Agency (EMA).
The muscular dystrophies are a group of inherited genetic diseases that cause progressive muscular dysfunction. DMD is a recessive, X-linked form that is both the most common and the most severe type of muscular dystrophy. Symptoms typically develop in early childhood, and most of those affected
Translarna (ataluren) is of potential therapeutic value only in DMD patients in whom the underlying genetic cause of disease is a nonsense mutation in the dystrophin gene; this represents 10-15% of DMD patients.
The EMA’s Committee for Medicinal Products for Human Use has formally recommended that conditional marketing authorisation should be granted for the new orphan drug, produced by PTC Therapeutics. This reverses a decision against the drug in January this year following reconsideration.
The EMA has said that Translarna will be of greatest utility in patients aged five and over who can still walk; efficacy has not been demonstrated in other patient sub-groups, though future results will be closely monitored as part of ongoing clinical trials.
DMD affects 18,600 boys and young men in Europe, including around 2,400 in the UK, of whom it is estimated that around 200 may be suitable for treatment with Translarna, which could be available by early 2015. European Commission approval will be required first, before individual countries can use it; the UK Muscular Dystrophy Campaign is calling for urgent meetings with National Institute of Health of Clinical Excellence (NICE) and NHS England to discuss approval and funding of the new treatment.
Dave Anderson MP, Chair of the All Party Parliamentary Group (APPG) for Muscular Dystrophy, said that it would “do all it can to make sure families with a nonsense mutation of Duchenne can access Ataluren as soon as possible”.