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NICE Recommend Translarna for treating nmDMD

Posted on: April 15th, 2016 | 0 comments

Translarna, the first ever treatment to address the underlying causes of Duchenne muscular dystrophy, has been recommended for funding by the National Institute for Health & Care Excellence (NICE). This guidance will be ratified and published after a legally mandatory 28 day consultation period, and will include the terms of a Managed Access Agreement (MAA) which will govern the future availability and monitoring of this groundbreaking treatment. This decision is testament to the collective effort of the Duchenne community over the last eighteen months, and evidences the power of the patient voice when it is integrated, coordinated and powerfully presented.

NICE ANNOUNCEMENT– “After considering all available evidence, and the opinions of the clinical and patient experts, the committee agree that Translarna represents an important development in the treatment of nonsense mutation DMD. Potential benefits associated with Translarna are great enough to justify its cost to the NHS when the proposed managed access agreement is applied. Translarna is therefore recommended for treating Duchenne muscular dystrophy resulting from a nonsense mutation”.

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What is a Managed Access Agreement? 

  • This is an accordance struck between the manufacturer, NICE and NHS England with the input of clinical experts and patient organisations such as Action Duchenne. This agreement will allow for a treatment to be made available to patients for a limited period of time, facilitating further gathering of evidence on a treatments’ meaningful benefit.

What are the key factors of this agreement for Translarna? 

  • This agreement will take effect when NICE guidance is published and will remain in force, with NHS England funding, for a period of up to five years. Patients who are ambulant (able to walk 10 steps unaided), aged 5 and over and whose Duchenne is caused by a nonsense mutation would be eligible for treatment but must sign up to a ‘Managed Access Patient Agreement’.
  • They will be monitored at their regular clinical appointments according to the standard North Star Assessment with results entered into the North Star database. Patients aged 7 and over will further participate in a Paediatric Quality of Life (CHU9D) assessment.
  • The results of those monitored will be matched against a control group whose Duchenne is not caused by a nonsense mutation and who, subsequently, will not be in receipt of Translarna. They will be of a similar age, allowing for the benefits of the treatment to be accurately measured.
  • Treatment will be discontinued no later than 6 months after becoming fully non-ambulant, defined as no longer able to stand even with support and entirely dependent on a wheelchair.
  • During the five years of observation, the North Star Assessment scores of both cohorts will be compared allowing for a definitive appreciation of the benefit Translarna affords. On the basis of this evidence, NHS England will either fund Translarna in-perpetuity or remove funding if the treatment has proved ineffectual.

What do I need to do as a priority? 

  • Boys and young men can only start treatment once a full set of standard baseline criteria has been obtained. Whilst the MAA does not take effect until May 25, we are meeting with all stakeholders to discuss this agreement on Friday April 22. After this meeting we will provide further advise on getting on:
    – undertaking this baseline assessment
    – making preparatory steps towards signing the proposed Managed Access Patient Agreement.

Action Duchenne would like to thank PTC Therapeutics, NHS England and NICE for the tireless work they have put into establishing an agreement that delivers Translarna to those who need it. We were delighted to play a positive role in supporting these discussions and are pleased that they have led to the best possible outcome.


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Paul Lenihan MBE, CEO of Action Duchenne; “This is an important day for the Duchenne community, which has been working hard to make this ground-breaking drug available to boys with nonsense mutation Duchenne muscular dystrophy. We are delighted by this positive recommendation and NICE’s recognition that Translarna is an important new medicine for patients. This decision is a hugely encouraging sign that both NICE and NHS England have listened to the patient community, bringing hope to each and every parent and patient fighting DMD”. 

Diana Ribeiro, Director of Research at Action Duchenne; “We really want to commend the PTC team for their flexibility and efforts. From being the first to use the 6MWT, in using alternative endpoints in their confirmatory trial to their efforts in extrapolation; deriving long-term clinically meaningful interpretation. Most importantly, this has set the benchmark in developing a fit-for-purpose health economic model for Duchenne. We hope this will set a precedence for other therapies which are currently in the pipeline and will ensure that more pharmaceutical companies, academics and allied healthcare professionals investigate this area. This will guarantee, in turn, that as many boys, young men and adults have access to novel treatments as possible, improving the quality of their lives.”


Dominic Lincoln Tony Lincoln, Grandfather to Dominic, aged 12 (pictured); “As a family we are over the moon that NICE have made the right decision. Dominic missed out on the clinical trial but will now be eligible for treatment, allowing him to keep doing the simple things that make life so precious. From playing hide and seek, to riding his three wheeled bicycle, Translarna will allow Dominic to enjoy a better quality of life”

Stuart W. Peltz, Ph.D., CEO of PTC Therapeutics, Manufacturer of Translarna; “We are extremely pleased by the NICE recommendation, which is a crucial step towards ensuring that boys and young men with this rapidly progressive disease can access the first and only approved therapy to treat the underlying cause of nonsense mutation Duchenne muscular dystrophy. We are grateful to the patients, families, advocacy groups and physicians who have supported PTC Therapeutics through this important access process.

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Greg Mullholland MP- – “I am delighted that NICE have reached this decision, which the #FundOurDrugsNOW campaign has pushed very hard for. This will hopefully set a precedent for the future of treatments for Duchenne and Rare Diseases”  

Action Duchenne would like to thank everyone who has supported us upon this journey to get Translarna approved. Since the drug was granted conditional approval by the European Medicines Agency in July 2014 the community has fought tirelessly, overcoming all obstacles to achieve this landmark decision.


Campaign Timeline: 

Saul and Cameron

January 2015: After NHS England’s specialised commissioning process was scrapped, Action Duchenne’s founder, Nick Catlin, launched a petition for Translarna. This was presented to Prime Minister David Cameron as the community came together for a momentous lobby in Westminster.

February & March 2015: Action Duchenne begin to increase the pressure on health professionals and politicians as we organise rallies outside NHS England and No.10 Downing St. 


Vigil April 2015: After organising an April Fools Day rally, Action Duchenne wrote our feedback to NHS England’s 90 day consultation on specialised commissioning.

June & July 2015: A third visit to Downing St is followed by a negative funding recommendation from NHS England and the deferral of responsibility to NICE. Action Duchenne respond by attending emergency meetings with politicians and senior NHS figures.


Conf Letters 1September & October 2015: After the First Evaluation Committee Meeting (ECM) NICE publish their draft guidance provisionally refusing to recommend Translarna for funding approval.

November 2015: Action Duchenne feedback to consultation on draft guidance whilst #ADCONF15 sends united message to NICE & NHS England. These views are thoroughly considered during the second ECM.

Dave-AndersonDecember 2015 & January 2016: Whilst beginning to steward Translarna through the devolved Scottish Medicines Consortium (SMC) process, Action Duchenne engage in behind the scenes negotiations with NHS England, NICE, clinical experts, PTC Therapeutics and other patient groups to develop a Managed Access Agreement.


lobbySpring 2016: After further negotiations and an unprecedented third ECM, Translarna is finally granted approval by NICE, bringing the community’s monumental battle to a conclusion.

Today’s decision vindicates everything we’ve argued over the last eighteen months and demonstrates the power of this community when we work together. Whilst we’d like to thank everyone whose been involved in working towards this decision, particular praise goes to parents Bernard Mooney and Gary Hill who spoke so passionately during the NICE Evaluation Committee Meetings. Indeed, their contribution is recognised in today’s guidance:

“Evidence from patient experts and patient groups highlighted the substantial impact of Duchenne muscular dystrophy on the quality of life of people with the condition and their families”.


What about Scotland? 

Whilst NHS England is mandated to implement this guidance, with NICE’s decision further binding in Wales, Northern Ireland and the Isle of Mann, we received the disappointing decision last week that the SMC would not be recommending Translarna for routine use within NHS Scotland. This is despite the proactivity and efforts of Action Duchenne, families, and other charities to inform SMCs evaluation and ensure that the patient voice remained at the heart of their considerations.

After doing everything we could to support the process, it is clear that Scotland has no framework for fairly appraising and funding drugs for rarer conditions. Whilst we are pleased that PPRS payments are being used to sustain the New Medicines Fund and fund drugs like Translarna on an individual case by case basis, forcing families and clinicians to submit these requests is not an appropriate model for funding orphan and ultra-orphan medicine and could potentially lead to a postcode lottery. Today’s guidance from NICE reflects their willingness and ability to analyse and consider the voice of clinical and patient experts. SMC has no mechanism or inclination to do likewise and will resultantly continue to make divergent recommendations when it comes to orphan medicine. Action Duchenne are feeding these thoughts back into the Review of Access to New Medicines in Scotland, and will be publishing our response this Wednesday. Until the SMC has a process which it fit for purpose, and ensures consistency in commissioning across the UK, the devolution of decision making should be seriously reconsidered.

Moving Forwards 

NICEs decision to approve Translarna is an enormous breakthrough in the history of Duchenne in the UK, and is something which Action Duchenne have been striving towards for the past fifteen years. Whilst this drug will only benefit 13% of the population, we hope this decision will set a precedent for other therapies in the pipeline and ensure that more pharmaceutical companies and academics investigate this condition. We know you’ll continue to work alongside us to ensure a bright future for Duchenne treatment in the UK, where effective therapies are made available to all families who so desperately need and deserve them. As a community we won’t rest until there is a cure. Thank you, as ever, for your magnificent support.


If you have any queries regarding Translarna, please contact, Aaron Revel (Campaigns Officer) on 020 8556 9955 or via


If you have any questions or press enquiries on the 16 and 17 of April please contact Paul Lenihan on 07554 008434 .

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