20 July 2016

NICE publishes final guidance recommending ataluren for children with Duchenne muscular dystrophy

NICE has published final guidance recommending ataluren for treating children aged 5 and over with Duchenne muscular dystrophy (DMD) caused by a nonsense mutation.

Today's guidance (full pdf version here) follows the announcement on 7 July that NHS England and the company, PTC Therapeutics, have successfully negotiated a ‘managed access agreement’ that established financial and clinical details surrounding the use of ataluren.

This ‘managed access agreement’ was a condition for making the drug available imposed by NICE in its April draft guidance.

As part of the agreement the usual 3-month funding period has been waived by NHS England, meaning ataluren could be available within weeks.

Sir Andrew Dillon, chief executive of NICE, said: “Duchenne muscular dystrophy caused by a nonsense mutation is a cruel disease that currently has few treatment options. Ataluren is an innovative drug 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.

 “When we published our draft recommendations in April we acknowledged that ataluren represents a significant cost to the NHS at a time of increased pressure on funding, especially given the uncertainties of the drug’s potential long-term benefits.

“We are therefore extremely pleased NHS England and the company have agreed the terms of a 5-year managed access agreement for ataluren. The agreement means children with this condition will now be able to access the drug while at the same time allowing more data to be gathered on its efficacy, before the guidance is reviewed and a further decision made on whether funding should be continued after 5 years.”

Step change

The drug has been called a ‘step change’ in the management of the disease which causes progressive muscle wasting and is usually fatal by age 30.

Children with the disease typically become dependent on a wheelchair by age 12 and the NICE committee agreed that ataluren had the potential extend to this by up to seven years, potentially giving children the chance of a normal adolescence and allowing them to continue school for longer.

Patients and their families considered this one of the most important factors for treatment.

Duchenne muscular dystrophy is a severe, progressive muscle-wasting genetic condition caused by the lack of a protein called dystrophin. Usually affecting only boys, there are between 60 and 70 children born with the disease in England each year and in around 6 – 9 children (13%) it is caused by a ‘nonsense mutation’.

The standard treatment is corticosteroids which can delay deterioration but can cause unwanted effects such as growth retardation, bone thinning, mood swings and weight gain.

Ataluren works by allowing the body to read over the mutation in the DNA and continue to produce dystrophin.

The committee heard:

  • In a clinical trial, none of the children in the most sensitive group taking the drug lost the ability to walk over the 48 weeks of the trial compared with 8% on the placebo (0 out of 47 compared with 4 of 52).
  • The research predicted ataluren may delay loss of walking for up to 7 years.
  • Patient experts said they had seen meaningful stabilisation or improvements in their child’s mobility such as being able to get into and out of bed independently and go to school.
  • Patient experts said once a child loses the ability to walk, greater deterioration follows meaning they need help with self-feeding and personal care such as showering and going to the toilet. If the time to loss of walking could be delayed, their children would have the opportunity to have a more normal adolescence.

Ataluren is licensed for children with DMD caused by a nonsense mutation aged 5 and over who are able to walk. Its list price is approximately £220,000 per year.

The drug has been considered as part of NICE’s Highly Specialised Technologies programme that looks at treatments for very rare diseases that are commissioned nationally by NHS England.

The guidance recommends ataluren be made available under the terms of the MAA and provided the company supplies the drug with the confidential discount agreed in the patient access scheme.

It is thought around 50-60 children could benefit from the drug during the five year managed access agreement.