Relief for Sam, 13, and others with ultra-rare condition Morquio after NICE recommends 'life-changing' drug Vimizim for routine use

Health regulator NICE has announced it will now recommend Vimizim for treating people with the condition of all ages in England and Wales, including newly diagnosed and those already receiving the treatment.

The decision marks the end of a tireless campaign by Morquio patients and their families and supporters to secure the long-term use of the revolutionary drug - an enzyme replacement therapy - which has been shown to improve lives by allowing children to grow, as well as improving stamina, walking and pain levels.

Until now, it was initially only available to those on a clinical trial and later via a ‘managed access agreement’ - a ‘first of its kind’ short-term funding arrangement by NICE and NHS England to evaluate its effectiveness - but all with the knowledge that one day it could be stopped for good.

But now, NICE has concluded it is recommending the drug - also known as elosulfase alfa - for routine use in a momentous decision which many hope could hold great promise for the future treatment of other rare conditions.

The Yorkshire Evening Post has been following the saga for years after Otley schoolboy Sam Brown was among those affected.

Now 13, Sam has been on the drug for ten years and his mum said knowing it will be there for his future brings delight and relief at the same time.

“It’s almost a decade of uncertainty that has come to an end.

“It’s going to take us all a lot of time to get used to the idea that we don’t have this worry any more.

“That this is not going to be there for him and for others.

“I’m totally delighted for Sam and totally delighted for the community as well.”

Morquio Syndrome is a degenerative condition which limits growth and mobility and shortens life expectancy to an average of 25 years.

Katy said, unlike other Morquio children pre-Vimizim who would often have to go to bed exhausted straight after school, Sam never complains of pain or fatigue and has so much energy, which is "testament" to what Vimizim brings.

She said: “It’s life-changing. Young children like Sam having a condition that is complicated and complex and debilitating and will get worse, it’s a very hard pill to swallow so the fact that that course is [now] altered and the impact [that has ] on his quality of life.

“I can’t imagine him not having it. I can’t imagine him being in a position where he can’t go out and play with his friends. Ultimately in a few years time he could get his dream job . That would [otherwise] be unimaginable.

“It really is something that gives you and him hope for a future that is different and free of some of the constraints of the condition that sadly he was unfortunate to be born with.”

Katy praised the hard work of charity MPS Society and others, including the YEP, for supporting the campaign over the years, which she said has “massively contributed to where we are today”.

She added: “Today we all breathe a collective sigh of relief. I feel immensely proud of our community’s resilience, dedication and strength to make sure that the patient voice has been truly heard and understood and hope this now paves the way for a brighter future for the treatment of other very rare conditions.”

Angela Paton, 48, of Kippax, who is one of the oldest Morquio patients in the UK, also described her relief at the momentous decision.

She said: “For it to be permanent, and a clinical decision made by doctors, forever, it means we can finally just draw a line under it and get on with our lives. It’s just a huge relief.”

She said the clinical trials have shown the drug has even more benefits than originally thought, adding: “So now that kids are just going to get it it’s fantastic, it’s amazing.”

Angela was also one of the original clinical trial patients so has been on the drug for 10 years. She said: “It’s been fabulous. I came off it for a while due to Covid and being a risk of infection, and I really noticed a decline. Because I’d been on it for so long, you forget what things were like before. But when I came off it, I really felt a drop in my energy and health. It took about three months when I went back on it for it to really kick in.”

Bob Stevens, group chief executive of the MPS Society, said: “ It has been a long and at times difficult journey, but due to the willingness of all parties to find innovative solutions, and the pivotal role the MPS Society has played, the long-term future of many within our MPS IVA community has been greatly improved.

“We want to thank the patients, clinicians and staff who have worked together to make this possible.”

Helen Knight, programme director in the NICE Centre for Health Technology Evaluation, said: “The arrangement to give access to elosulfase alfa while further data was collected on its clinical and cost-effectiveness was the first of its kind to have been attempted in the NHS in England.”

She said this announcement “demonstrates the value of this approach, with patient groups, clinicians, academics, companies, NICE and NHSE all working together to improve the lives of people with rare diseases”.

Timeline:

Vimizim was licensed by the European Medicines Agency in April 2014 and went on to be reimbursed in over 30 countries.

In England, however, it was initially made only temporarily available to those on the original clinical trial, due to the goodwill of manufacturer BioMarin.

Campaigners then became locked in a hard-fought battle to gain funding for the drug and in December 2015, funding was agreed by NICE and NHS England on a fixed five-year arrangement with BioMarin.

That arrangement was due to run out in 2020, when a long-term decision was due to be made, but this went on to be delayed further - until now.

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