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15 October 2015

NICE asks for further evidence for the benefits of a new treatment for Duchenne muscular dystrophy to justify its very high cost

In draft guidance produced by its Highly Specialised Technologies programme, NICE has asked for further clarification from PTC Therapeutics on the size of the benefit its drug ataluren (Translarna) provides in the treatment of a type of Duchenne muscular dystrophy (DMD). NICE has asked the company to provide the results of a confirmatory study of ataluren as soon as possible. The draft guidance also asks the company to provide further justification for the cost of the drug.

DMD is one of a group of muscular dystrophies. These are inherited genetic conditions that cause the body to produce too little dystrophin, a substance crucial for muscle functioning. This leads to changes in the muscle fibres which gradually weaken the muscles, resulting in an increasing level of disability. The decline in physical functioning in DMD leads to respiratory and cardiac failure and eventual death, usually before the age of 30.

The draft guidance relates to people with DMD with a mutation (known as a nonsense mutation) in the dystrophin gene. Around 8–13 boys are born with the condition each year in the UK.

Current treatment options for patients with DMD in England are limited and aim to alleviate symptoms and manage complications. These include cardiac and respiratory monitoring and support, orthopaedic intervention and spinal surgery. The current mainstay of treatment, corticosteroid therapy, can cause serious unwanted effects such as growth retardation, bone thinning, mood swings and weight gain.

Ataluren is the first licensed treatment for DMD that addresses the loss of dystrophin, the underlying cause of the condition. It has a conditional marketing authorisation in the UK for the treatment of DMD resulting from a nonsense mutation in the dystrophin gene, in patients who are able to walk aged 5 years and older.

Commenting on the draft guidance, Professor Carole Longson, NICE Health Technology Evaluation Centre Director, said: “We are disappointed not to be able to recommend ataluren in this draft guidance. DMD is one of the most common and severe forms of muscular dystrophy. It reduces life expectancy and causes debilitating symptoms that severely affect the quality of life of people with the condition, and their families and carers.

“The Committee heard from the patient experts that one of the most important aspects of managing DMD is maintaining their child’s ability to walk because this means they can continue to go to school independently and participate more fully in social and sporting activities with family and friends. There is, therefore, a clear need for a treatment that can prolong a child’s ability to walk but without serious side-effects.

“After considering the evidence, and the opinions of the clinical and patient experts, the Committee agreed that ataluren represents an important development in the treatment of DMD and could potentially prolong the time before children have to use a wheelchair, compared with best supportive care. However, the Committee was not convinced that the proposed cost of ataluren was justified by the evidence presented on the additional health benefits associated with ataluren over standard therapy. Therefore, on the basis of the current evidence, the Committee was minded not to recommend ataluren for treating nonsense mutation DMD.”

The Committee was made aware that the results of a confirmatory study of ataluren (PTC124 GD 020 DMD; Study 020) are due to be available shortly. The draft guidance therefore indicates that the results of this study should be presented to NICE when the company submits further clarification of the size of benefit ataluren provides for patients, carers and family members, and further justification of the cost of the drug. 

NICE has not yet issued final guidance to the NHS; these decisions may change after consultation. Consultees, including the company, healthcare professionals, patient/carer organisations and members of the public are now able to comment on the preliminary recommendations which are available for public consultation until 5pm on 6 November 2015. Comments received during this consultation will be considered by the Committee at its next meeting. This meeting is scheduled for 17 November 2015, but may have to be postponed if the company is unable to provide the data of the ongoing study to NICE in time for the meeting. Following this meeting, the next draft guidance will be issued.


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Notes to Editors

About the draft guidance

  1. The draft guidance states:

1.1                   Ataluren is an important development in treating Duchenne muscular dystrophy with a nonsense mutation in the dystrophin gene. However, the Evaluation Committee has not yet been presented with an adequate justification for its considerable cost, in light of the available evidence of its effect on health outcomes relevant for patients, carers and family members.

1.2                   The Committee is therefore minded to not recommend ataluren for treating Duchenne muscular dystrophy with a nonsense mutation in the dystrophin gene.

1.3                   The Committee recommends that NICE requests further clarification from the company on the size of the benefit ataluren provides for patients, carers and family members, taking into account the results of the multicentre, randomised, double-blind, placebo-controlled confirmatory study (PTC124-GD-020-DMD; Study 020).

1.4                   The Committee also recommends that NICE requests the company to provide further justification for the cost of ataluren per patient, taking into account the size of the benefit after further clarification (see 1.3), and compared with the benefit obtained with other highly specialised technologies available to NHS patients.

  1. The draft guidance on ataluren will be available on the NICE website from 16 October 2015.


About ataluren

  1. Ataluren (Translarna, PTC Therapeutics) is designed to allow the protein-making apparatus in cells to skip over the nonsense mutation, allowing the cells to produce a full length functional dystrophin protein. It is administered orally.
  2. 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.
  3. The company has agreed a patient access scheme with the Department of Health. If ataluren had been recommended, this scheme would provide a simple discount to the list price of ataluren with the discount applied at the point of purchase or invoice. The level of the discount is commercial in confidence.

About Duchenne muscular dystrophy

  1. Duchenne muscular dystrophy (DMD) is a severe, progressive X-linked recessive disorder which predominantly, though not exclusively, affects males. DMD with a nonsense mutation is caused by a single base variation in a person's DNA which leads to incomplete dystrophin production in the skeletal, smooth and cardiac muscle fibres.
  2. Dystrophin production is usually affected from birth and symptoms of DMD appear by the age of 3 years. The main symptom of DMD is motor dysfunction, but as the disease progresses, major vital organs such as the gastrointestinal tract and heart are affected.
  3. People with DMD 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 DMD 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. 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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