Cost regulators for the NHS in England and Wales have now issued final guidance recommending the use of PTC Therapeutics' Translarna for patients with Duchenne muscular dystrophy.

The National Institute for Health and Care Excellence (NICE) is endorsing the use of Translarna (ataluren) for ambulatory patients aged five years and older with nonsense mutation Duchenne muscular dystrophy (nmDMD), after NHS England and PTC reached agreement on an access deal.

DMD is a progressive muscle disorder caused by the lack of functional dystrophin, which is critical to the structural stability of skeletal, diaphragm, and heart muscles. Patients with DMD lose the ability to walk from as early as 10 years of age and experience life-threatening lung and heart complications in their late teens and early twenties.

Translarna is designed to enable the formation of a functioning protein in patients with genetic disorders caused by a nonsense mutation, an alteration in the genetic code that prematurely halts the synthesis of an essential protein. The drug, won conditional approval from the European Commission in August 2014 to treat nmDMD, and is currently available to patients in 23 countries through either expanded access programs or commercial sales.

However, Translarna costs £222,000 per year (before discount). Details of the five-year manage access agreement have largely been kept under wraps, but it was revealed that it includes an outcomes-based incentive for the manufacturer as well as a mechanism to monitor how well the medicine has worked in practice to help inform future funding decisions.

"Translarna is the first and only licensed treatment to address the underlying cause of Duchenne muscular dystrophy" said Janis Clayton, General Manager for UK & Ireland at PTC. "I am very pleased that the completion of this important review process undertaken by NICE and NHS England now ensures that a much-needed therapy is available for the children and young adults with nonsense mutation DMD that meet the requirements of the MAA".

Again highlighting the postcode lottery of access to novel medicines that exists in the UK, Scottish cost regulators turn down use of the drug on NHS Scotland "as there was too much uncertainty about the overall clinical benefits it might bring in relation to its cost", despite "powerful" testimonies from patient groups and clinicians.