Children living with a genetic muscle wasting condition called Duchenne Muscular Dystrophy (DMD) have hope of a different future after the first ever drug to treat the underlying genetic change in the dystrophin gene or ‘nonsense mutation’ was given conditional approval by the European Commission.

DMD is an inherited muscle wasting condition which affects around 2,500 people in the UK, predominately young males. It means that a part of the gene, dystrophin, which is responsible for maintaining healthy muscles, is dysfunctional or barely expressed. As children with Duchenne grow, their muscle function declines meaning they’re often wheelchair-bound by their early teens. Many people diagnosed with DMD face the prospect of not living into adulthood.

However, with a new drug, Translarna, being given conditional approval there is the potential to change that. Translarna will treat the 10-15% of those living with Duchenne with nonsense mutations, around 200 young boys living in the UK. The European Commission has given PTC Therapeutics; the New Jersey based Biotech Company, conditional approval for their proprietary compound for those aged five years and older who are still able to walk.

This conditional approval authorisation allows PTC to market Translarna in the 28 countries that are Member States of the European Union, as well as European Economic Area members Iceland, Liechtenstein and Norway. PTC is obligated to complete its confirmatory Phase III trial and submit additional efficacy and safety data.The data from a 48-week randomised double-blind multicenter study in Europe in 174 boys living with Duchenne with nonsense mutations showed a slower rate of decline than those on the placebo trial. Patients receiving Translarna had a 12.9 meter mean decline in a walking test called the six minute walk test (6MWD) and patients receiving placebo had a 44.1 meter mean decline in 6MWD.

In May this year, the Committee for Medicinal Products for Human Use, part of the European Medicines Agency framework, found that these results suggest that Translarna slows the loss of walking ability in those with DMD with nonsense mutations and this decision was then ratified by the European Commission.

Action Duchenne, a UK-wide and parent-led organisation funding leading Duchenne Muscular Dystrophy research, welcomed the news and looks forward to the additional data provided by the Phase III trial, supporting the drug’s future potential.

Stuart Peltz, Ph.D., CEO of PTC Therapeutics, Inc. agreed, stating “We are moving rapidly to make this product available to patients in the EU as we continue our global efforts to fulfil our vision of making Translarna available to all the boys it may benefit”.

The next step for Translarna is getting it to patients. PTC Therapeutics Commercial Officer, Mark Rothera has said that this is the priority:”The world’s first approved treatment for the underlying cause of DMD marks a very important moment for patients and their families. It is our highest priority to make Translarna available to patients and we will be working with regulators, payers, physicians and patient organizations to make that a reality.” stated Mark Rothera, Chief Commercial Officer, of PTC Therapeutics, Inc.

Bernie and Rachel Mooney, parents of Ben said: ““This is fantastic news. Ben has been on the trial from an early stage and we are extremely pleased it has got conditional approval. We see this as a vital step forward in increasing confidence in the treatment of Duchenne and it paves the way for the treatment of everyone living with this awful condition.”

Diana Ribeiro, Action Duchenne’s Head of Research said: “This really is a landmark day for our inspirational supporters and wider community who all played a key part in getting where we are today. We continue to work closely with PTC Therapeutics as it seeks to make Translarna available in the UK and, indeed internationally over the next year. With the momentum gained in the research arena; the growing drug pipeline and new potential treatments on the immediate horizon, for families there is a palpable sense of real hope. We shall continue to work together until we reach our goal, so all families living with Duchenne Muscular Dystrophy can access these effective treatments.”