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NICE Evaluation Committee Meeting on Translarna. Full Report

Posted on: September 18th, 2015 | 0 comments

Action Duchenne were yesterday in attendance for NICE’s crucial Highly Specialised Technology Evaluation Committee Meeting on Translarna. This meeting allowed the NICE board to be presented with evidence from; PTC Therapeutics, leading clinicians and patient experts, on the clinical efficacy of Translarna and the importance of the groundbreaking treatment for patients, their families and the Duchenne community at large.


Presentations by Committee Members

The meeting began with a series of presentations from Evaluation Committee members, with Dr Jonathan Howell (Consultant in Public Health) providing the first of these on the nature of Duchenne muscular dystrophy and the clinical evidence for Translarna’s efficacy. After a thorough exposition of the cause, symptoms and effects of Duchenne, Dr Howell moved onto detail the how Translarna works. That is, by allowing the protein-making apparatus in cells to skip over the nonsense mutation, cells produce a functional dystrophin protein. He then presented some of the key findings forwarded by PTC which detail the efficacy of Translarna in slowing the deterioration of patients condition. Indeed, in PTC’s corrected intention to treat analysis, patients receiving the drug (in 40mg/kg dosage) benefited from an average 31.3 metre difference over patients on placebo in a 6 minute walk test at the end of the 48 week trial.

The second presentation was offered by Dr Mark Sheehan, who sought to elucidate the needs of Duchenne patients, their families and their carers, whilst assessing the additional costs encumbered in the day to day management of the condition. Indeed, the availability of Translarna and the subsequent ability for boys to keep walking longer has the potential, not only alleviate the financial burden falling on families, but also to lead to savings in numerable other budgets including NHS, personal social services, education, local government and welfare. Crucially however, Dr Sheehan concluded that, “The experiences of patients, their families and carers of the inevitable and devastating decline in mobility and functioning demonstrate a clear and pressing need that makes a very strong claim for NHS resources”.

The third and final presentation of the opening session was given by Professor Ron Akehurst (Strategic Director of BresMed & Prof. in Health Economics), who sought to analyse; PTCs cost-consequence analysis, the resources required by NHS to fund Translarna, and the companies estimation of how significant a delay in loss of ambulation could result from a patient receiving Translarna from age 5 on wards. This included a scrutiny of the proposed net budget impact of funding Translarna, which (based on the estimated average weight of patients) was estimated to be £13.4m in year one, £16.1m in year two and £18.8m in year three. However, it is crucial to consider that Specialised Services have an existing budget of £14bn. Further scrutiny was given to PTCs estimations that Translarna could potentially allow patients to maintain ambulation for an additional 8 years if the were to receive the treatment from age 5. This was a crucial area of discussion. Whilst these are undoubtedly magnificent findings, there was an admission on all sides that it is difficult to estimate potential benefits, yielded over a 30 year period, from just a 48 week trial.


Patient and Clinical Experts

In addition to the clinical evidence provided by PTC and analysed by the NICE board, patient experts (Bernie Mooney, father to Ben and Gary Hill, father to Archie) made a vital contribution to discussions and helped to substantiate the case for funding Translarna with first hand experiences of living with Duchenne and receiving the treatment. Gary provided a lucid and moving account of what difference Translarna would make, “if the effects of Duchenne can be held back, even for a while, it would be immense for us as a family”. Similarly, Bernie was able to detail the enormous benefits his family have experienced as a consequence of his son Ben receiving Translarna. Not only is Ben nearly 15 years old and still walking, but this has allowed him to maintain much of his independence; limiting the care burden on the rest of the family and facilitating more opportunities for socialising and enjoying life. The ability for Ben to take himself to school, or visit friends un-adapted houses, or perform tasks independently at home is, as Bernie stated, ‘invaluable’. MDUK CEO Robert Meadowcroft also told committee members of the enormous emotional benefits resulting from prolonged independence and ambulation. For some boys, receiving Translarna will mean they can play football or socialise with friends, without fear of falling.

Clinical Lead of the North Star network, Dr Adnan Manzur, along with Dr Michela Guglieri (Honorary Consultant in Human Genetics, Newcastle) also made an invaluable contribution to proceedings, offering clarity on the nature and progression of Duchenne and the existing best standards of care, whilst ameliorating concerns over additional clinical costs that may be encumbered by the NHS in administering Translarna to patients.


Moving Forwards

Action Duchenne would like to offer an enormous thank you to Dr Stuart Peltz (Founder, President & CEO of PTC Therapeutics), Janis Clayton (General Manager of PTC Therapeutics), along with all the patient and clinical experts for contributing towards these discussions and making such a robust and multifaceted case for Translarna to receive funding. The NICE board are set to announce their interim funding decision for Translarna on November 17.

In the meantime, Action Duchenne will continue to do everything we can to influence this process and ensure that Translarna receives funding approval as soon as possible. We are awaiting a response from David Cameron after our latest letter to the Prime Minister, and are also pushing James Palmer (Clinical Director of Specialised Commissioning) for clarity on his departments  utilisation of Pharmaceutical Price Regulation Scheme (PPRS) payments and the consequences for funding decisions like Translarna’s.



How you can help!

– Tweet to key figures within the process, @NICEcomms @JamesPalmerNHS @David_Cameron @Jeremy_Hunt demanding they #FundOurDrugsNOW #translarna

– Use our template letter to write to your MP and ask for their support on this issue! Translarna-MP-Letter


For more information on the ongoing campaign for access to Translarna, please contact, Aaron Revel (Campaigns Officer) on 020 8556 9955 or via

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