Cost regulators for health technologies funded by the National Health Service in England and Wales have rejected a novel treatment for the genetic condition Duchenne Muscular Dsytrophy, seeking more data from the firm to confirm its benefit and justify its high cost.

PTC Therapeutics’ Translarna (ataluren) is the first licensed treatment for DMD that addresses the loss of dystrophin, the underlying cause of the condition, with current treatment options in England ‘merely’ focusing on alleviating symptoms and managing complications. But the current standard of care - corticosteroid therapy - can cause side effects such as growth retardation, bone thinning and weight gain, underscoring the need for alternatives.

Translana has been awarded a conditional marketing authorisation in the UK for treatment of DMD resulting from a nonsense mutation in the dystrophin gene, in patients who are able to walk aged five years and older. Around eight to 13 boys are born with this condition in the UK every year.

But, while NICE has recognised that the drug represents “an important development in the treatment of DMD and could potentially prolong the time before children have to use a wheelchair”, draft guidelines produced by its Highly Specialised Technologies arm seek further clarification on the magnitude of the benefit, and ask that data from the ongoing confirmatory study (designed to back full approval) are provided as soon as possible.

However, data from this study separately released today show that the therapy failed to achieve its main goal of significantly improving the distance achieved by patients in the standard six-minute walk test.

PTC’s chief executive Stuart Peltz said results from the trial still “show Translarna's ability to change the course of DMD disease progression," and that "the totality of the data from our two robust placebo-controlled studies across over 400 patients demonstrate a clinically relevant impact on patients' lives."

Nevertheless, the firm’s task of justifying the £220,256 per patient per year cost of the drug just got somewhat harder.