The UK’s National Institute for Health and Care Excellence (NICE) has recommended PTC Therapeutics’ Translarna (ataluren) for the treatment of Duchenne muscular dystrophy (DMD) caused by a nonsense mutation in England.
Translarna is a protein restoration therapy that is designed to enable the formation of a functioning protein in patients with genetic disorders caused by a nonsense mutation.
A nonsense mutation is an alteration in the genetic code that prematurely halts the synthesis of an essential protein.
DMD is a progressive muscle disorder caused by the lack of functional dystrophin protein, 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 ten years of age and experience life-threatening lung and heart complications in their late teens and early twenties.
NICE chief executive Sir Andrew Dillon said: "Duchenne muscular dystrophy caused by a nonsense mutation is a cruel disease that currently has few treatment options. Ataluren is a medicine that for the first time is aimed at the root cause of the disease and has the potential to offer benefits to people with the condition and their families.
"NICE acknowledges that ataluren represents a significant cost to the NHS at a time of increased pressure on funding and has considered this carefully against the uncertainties of its potential long-term benefits.
"This is why the committee has recommended the drug be made available for an initial period of five years, under strict conditions to allow more data to be gathered on its efficacy, before the guidance is reviewed and a further decision made on whether funding should be continued."
Translarna has been recommended for children with DMD caused by a nonsense mutation aged five years and over who are still able to walk.
Ataluren allows the body to read over the mutation in the DNA and continue to produce dystrophin. It also has the potential to delay the loss of ability to walk in patients affected with DMD.
PTC and NHS England are currently in the process of finalising a managed access agreement (MAA), which would allow PTC to collect further data on the efficacy of Translarna for the treatment of nmDMD over a five-year period, with NICE guidance to be reviewed again at the end of that period.