06:54am Tuesday 18 February 2020

Muscular dystrophy expert's disappointment at drug refusal

In August 2014, Translarna became the first drug addressing the cause of Duchenne muscular dystrophy to be approved by the European Medicines Agency (EMA). It has been available in several EU countries but is yet to be made available in England.

Families have been waiting since last summer for a decision from NHS England on whether it will fund the drug as the treatment could keep some children with the severe muscle-wasting condition walking for longer.

NHS England has announced that it has deferred its response to the National Institute for Health and Care Excellence (NICE), which will conduct a review of the drug, reporting back early next year.

Professor Kate Bushby has been leading a clinical trial of Translarna at The John Walton Muscular Dystrophy Research Centre, which is part of the Institute of Genetic Medicine at Newcastle University.

Professor Bushby (pictured), who is Honorary Consultant Geneticist at Newcastle Hospitals NHS Foundation Trust, said: “It is very disappointing for the Duchenne muscular dystrophy community that the NHS has decided not to fund Translarna at this juncture. The drug is already available in several European countries following EMA conditional approval last year including Germany, Greece, Italy and France.

“Drugs for rare diseases are very expensive, but this is a function of the development pipeline and should not disadvantage the patients who suffer from these conditions. If we are to have a constructive pipeline for rare disease drug development then there needs to be a way to ensure that drugs which have been approved by the EMA have a mechanism to be available on the NHS.

“We in the UK led Europe in recruitment for the clinical trials of Translarna and it is very disheartening to see that the investment that the research community, and the time given up by patients and families to participate in these studies is not being reflected in a positive funding decision.

“There are likely to be many drugs coming on line for Duchenne where the benefit will be to stabilise the disease or reduce the rate of progression and these outcomes in themselves are extremely valuable in such a relentlessly progressive condition.”

Duchenne muscular dystrophy is a genetic illness affecting approximately 2,500 people in the UK, mainly young males. Those living with the condition can have a significantly shorter life-expectancy and often children lose the ability to walk before they reach their teenage years.

Translarna is only suitable for 10-15% of those living with the condition and works by making the body skip genetic mutations responsible for the development of the disease.

NICE is expected to produce draft guidance on the treatment in October, with final guidance to follow shortly after. The medicines regulator has also asked the manufacturer to undertake further studies of the drug for completion in October.

Robert Meadowcroft, Chief Executive of Muscular Dystrophy UK, said: “This news is a harsh blow to each and every boy and young man living with Duchenne muscular dystrophy.

“Translarna is the first drug licensed and available in the EU to treat the underlying genetic cause for a proportion of boys with this devastating condition. Parents of young children have faced a grueling nine-month wait for an answer on funding, only to hear ‘no’ from NHS England.

“Translarna could give boys precious extra time walking for longer, helping to delay the progression of the condition. Some boys are now at high risk of losing the ability to walk before NICE’s assessment next year and ultimately, once this has happened these boys will also lose the opportunity to take this drug.

“Our focus now is to support parents affected by this decision through the waiting period, and to explore all alternatives, including working with senior doctors on requests for individual funding. We will also be looking ahead to NICE’s decision in early 2016, building the case for funding for Translarna.”




Key Facts:

  • Newcastle University is a Russell Group University
  • Ranked in the top 1% of universities in the world (QS World University Rankings 2014)
  • Ranked 16th in the UK for global research power (REF 2014)
  • Ranked 10th overall in the UK and 3rd for quality of staff/lecturers in the Times Higher Education Student Experience Survey 2015
  • Winner: Outstanding Leadership and Management Team and Outstanding Procurement Team, Times Higher Leadership and Management Awards 2015
  • Amongst our peers Newcastle is:
    • Joint 6th in the UK for student satisfaction
    • Ranked 1st in the UK for Computing Science research impact, 3rd in the UK for Civil Engineering research power and 11th in the UK for Mathematical Sciences research (REF 2014)
    • Ranked 8th in the UK for Medical and Life Sciences research quality (REF 2014)
    • Ranked 3rd in the UK for English, and in the top 12 for Geography, Architecture and Planning, and Cultural and Media Studies research quality (REF 2014)
    • Engineering and Physical Sciences Research Council (EPSRC) top 20 strategic partner
  • 94% of our students are in a job or further training within six months of graduating
  • We have a world-class reputation for research excellence and are spearheading three major societal challenges that have a significant impact on global society. These themes are: Ageing, Sustainability, and Social Renewal
  • Newcastle University is the first UK university to establish a fully owned international branch campus for medicine at its NUMed Campus in Malaysia which opened in 2011
  • 90% Satisfaction level from our international students (ISB 2014)
  • Newcastle University Business School is one of 20 Triple Accredited Business Schools in the UK

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