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15 April 2016

NICE recommends ataluren for treating Duchenne muscular dystrophy caused by a nonsense mutation

NICE has today recommended ataluren (Translarna, PTC Therapeutics) for treating children aged 5 and over with Duchenne muscular dystrophy (DMD) caused by a nonsense mutation.

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 wheelchair dependent by age 12 and the committee agreed that ataluren had the potential to delay the loss of ability to walk, one of the most important factors for patients and their families.

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 toileting and eating. If the time to loss of walking could be delayed, their children would have the opportunity to have a 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.

Ataluren 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 committee recommended ataluren be made available under certain circumstances, which will need to be set out in a managed access agreement between the company and NHS England:

  • Within its licence – for children with DMD caused by a nonsense mutation aged five years and over who are still able to walk.
  • Under a confidential financial agreement between NHS England and the company. The company will need to agree a cost which is acceptable to NHS England for this guidance to be put in place.
  • For five years in a ‘managed access agreement’ allowing the company to collect further data on its efficacy. The guidance will be reviewed at the end of that period.

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 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.

“Because of its very high cost, it is important that details of the financial and other arrangements to enable this new medicine to be offered to patients on the NHS are discussed and agreed between the company and NHS England, and set out in a managed access agreement.

“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.”

Duchenne muscular dystrophy is a severe progressive disease linked to the X-chromosome, affecting mostly 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’. It causes insufficient production of the protein, dystrophin, that protects muscle from wasting.

The disease is present from birth and symptoms usually appear at around age 3. It leads to gradual decline in muscle function with children often using a wheelchair by early adolescence and eventually requiring artificial ventilation to breathe.

Ataluren works by allowing the body to read over the mutation in the DNA and continue to produce dystrophin. It is unclear how long it remains effective.

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

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.

Dr Peter Jackson, Chair of the NICE High Specialised Technologies Evaluation Committee said: “This was a difficult evaluation given the uncertain nature of the data and the high cost of the drug. However the committee recognised that this is a distinct disorder, striking children at a significant stage of their lives and that the drug is highly innovative because it allows the body to continue making an active form of the protein it is missing.

“But the committee could not have recommended ataluren without the agreement to limit its use to five years while more data are gathered. If those data show that the drug is less effective in the longer term and doesn’t provide good value, the NHS is not committed to funding the drug in the long-term.”

NICE has not yet issued final guidance to the NHS. Consultees, including the company, healthcare professionals, patient/carer organisations are now able to consider whether they wish to appeal against it and/or notify NICE of any factual errors.


For more information call the NICE press office on 0845 003 7782 or out of hours on 07775 583 813.

Notes to Editors

About the draft guidance

  1. The draft guidance on ataluren is available on the NICE website.  
  2. Ataluren is designed to allow the protein-making apparatus in cells to read through the nonsense mutation, allowing the cells to produce a full length functional dystrophin protein. It is administered orally.
  3. The recommended dosage of ataluren is 40 mg/kg body weight per day. The company submission states that the list price of ataluren is £2532 per box of 30 sachets containing ataluren 125 mg. Assuming a median weight range of 24–26 kg, the total cost per person per year of treatment with ataluren is £220,256 at the list price.
  4. Ataluren is recommended only if the company provides it at a discounted price to the NHS at the point of purchase. The level of the discount is commercial in confidence under the patient access scheme agreed with the Department of Health. The draft guidance sets an expectation that NHS England and the company, in conjunction with patient representatives, will sign off on a managed access agreement, which will set out the clinical detailing (such as starting and stopping rules, and duration of treatment), cost of access to treatment and clarifies responsibility for data collection, within 3 months of publication. 
  5. Due to the uncertainty around the long-term benefits of the drug, the committee also recommended that ataluren should be made available under a managed access scheme to be agreed between the company and NHS England. Under the scheme patients will receive treatment whilst additional data from 50 patients is collected. The scheme will be in place for 5 years, after which point NICE will review its guidance.
  6. If funded, eligible patients will remain on the drug until they lose the ability to walk unaided and treatment should be stopped no later than 6 months after this point.
  7. Patients will be expected to sign an agreement which makes it clear that if NICE does not recommend ataluren when the guidance is reviewed at the end of 5 years, NHS England funding for ataluren will no longer be available for any patient and treatment will stop.
  8. Subject to any appeals received against the draft guidance, the final guidance on ataluren is due next month. The recommendation(s) contained within NICE HST guidance to the NHS will be subject to the 3-month funding direction as per NICE technology appraisal guidance. Therefore, in developing how a highly specialised service is to be directly commissioned, NHS England is subject to the same requirements as the rest of the NHS regarding a technology for which NICE has issued guidance through the programmes in which the funding direction applies.
  9. The Scottish Medicines Consortium recently turned down ataluren for funding in Scotland – see

About Duchenne muscular dystrophy

  1. Duchenne muscular dystrophy is a severe, progressive X-linked recessive disorder which predominantly, though not exclusively, affects males. Duchenne muscular dystrophy with a nonsense mutation is caused by a single base variation in a person's DNA which leads to incomplete dystrophin production in muscle.
  2. Dystrophin production is usually affected from birth and symptoms of Duchenne muscular dystrophy appear by the age of 3 years. The main symptom of Duchenne muscular dystrophy is motor dysfunction, but as the disease progresses, major vital organs such as the gastrointestinal tract and heart are affected.
  3. People with Duchenne muscular dystrophy experience a decline in physical functioning with subsequent respiratory and cardiac failure which leads to death, usually before the age of 30.
  4. Current management of Duchenne muscular dystrophy includes treatment with corticosteroids. Other interventions include cardiac and respiratory monitoring and support, occasional inpatient orthopaedic intervention, inpatient spinal surgery and rehabilitation. In addition, dietetic advice (and, in some cases, gastric feeding), prevention and treatment of bone fragility, and management of complications of long-term corticosteroid therapy may be required, as well as psychosocial support.
  5. Clinical care is provided by a range of health-care professionals depending on local services, including neurologists or paediatric neurologists/neuromuscular specialists, rehabilitation specialists, neurogeneticists, paediatricians, and primary-care physicians.

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Because of its very high cost, it is important that details of the financial and other arrangements to enable this new medicine to be offered to patients on the NHS are discussed and agreed between the company and NHS England, and set out in a managed access agreement.

Sir Andrew Dillon, chief executive of NICE