A life-changing drug that can improve mobility in children and adults with a rare genetic condition will be available on the NHS following a new commercial deal, chief executive Amanda Pritchard announced this week.

Risdiplam will be used to treat hundreds of patients a year with Spinal Muscular Atrophy (SMA), a rare and often fatal genetic disease that causes paralysis, muscle weakness and progressive loss of movement.

The drug improves motor function and is taken as a syrup medicine once a day after meals. It is the first non-injectable treatment for SMA and can be taken at home.

This is the third treatment for SMA secured by the NHS in less than three years, transforming care of patients with the condition and means there is now an innovative drug available for individuals with SMA types 1, 2 and 3.

NHS chief executive Amanda Pritchard said:

“In the last three years the NHS has revolutionised care for people with Spinal Muscular Atrophy, by securing access to a trio of innovative treatments- Spinraza, Zolgensma and now Risdiplam- whereas three years ago clinicians had no effective medicines at all.

“SMA is a cruel disease and the leading genetic cause of death among babies and young children, which is why NHS England has been determined to make these treatment available to people as soon as possible to help transform the lives of patients and their families.

“It is yet another example of the NHS leading the way in securing access to the newest and most innovative treatments and therapies available for patients, not only for those with rare genetic conditions, but in all areas including fighting cancer and Covid19 in line with the NHS Long Term Plan”.

At least 215 people in England have already had Risdiplam via the early access scheme provided earlier this year.

The drug has a list price of nearly £8,000 per dose, but following a deal struck between the manufacturer Roche and NHS England, the health service will have access to the drug at a price that is fair for taxpayers.

Babies as young as two months can be treated with the drug, with a diagnosis of SMA types 1, 2 or 3 or with one to four SMN2 copies.

Melvil Vedrenne-Cloquet, from London, has SMA type 3 and was the first patient from the UK to receive risdiplam through a clinical trial. Melvil, now aged nine, started taking the drug when he was five.

His mum Eve said:

“When my son Melvil was diagnosed with SMA type 3 there were no effective treatment options, not to mention, no cure for him, except on a clinical trial. It’s absolutely amazing how much has changed in such a short time.”

“Now, since taking Risdiplam, we have seen really positive results and my son faces a brighter future. It’s fantastic for the other children and their families out there that it will now be available on the NHS, because when it comes to a diagnosis of SMA, time is of the essence. Children will never get what they have lost back, so the faster they can get the right medicines the better”.

The liquid drug, licenced by the UK medicines regulator in May this year, works by modifying the SMN2 gene to produce increase amounts of SMN protein- essential for the health of nerve cells that control muscle movement.

It is likely to be especially significant for people with SMA where existing treatment options may not be appropriate, such as those who have had spinal surgery. Instead they may be able to have risdiplam, which is easily taken at home by swallowing.

The commercial deal struck by NHS England has ensured that The National Institute for Health and Care Excellence (NICE) has been able to recommend the drug for use by the NHS in England as a clinically and cost effective treatment option, publishing its draft guidance today.

In March the NHS announced a deal for the world’s most expensive drug Zolgensma, a life-saving gene therapy, which has now been used to treat 39 babies in England.

However, this treatment is not suitable for all babies and children with SMA – particularly those who are older. For these people Risdiplam may be an alternative treatment.

Dr Elizabeth Wraige, consultant paediatric neurologist at Evelina London Children’s Hospital, part of Guy’s and St Thomas’ NHS Foundation Trust, said:

“This is excellent news that we now have risdiplam as a third treatment option for people with SMA.

“This will be especially important for those with SMA who cannot receive either of the two existing treatments, Spinraza and Zolgensma. These are very exciting times and I am sure this news will be welcomed by those families and individuals affected by SMA as well as by their clinicians”.

Richard Erwin, General Manager, Roche Products Limited said:

“We are delighted that people living with SMA in England will now have access to another innovative and effective treatment option.

“Ensuring access to the latest medicines for rare diseases like SMA can be challenging. But, from our initial commitment via a successful Early Access to Medicines Scheme to a close collaboration with NHSE, NICE and the SMA community, today’s news shows that if everyone works together, we can achieve a positive outcome.

“We remain committed to ensure that this treatment is made available across the rest of the UK as quickly as possible”.

This is the latest in a series of ‘smart deals’ the NHS has agreed to secure innovative medicines for patients over the past 18 months, while also treating thousands of people with COVID-19 and delivering a rapid COVID-19 vaccines rollout, delivering more than 92 million doses to people since December 8.

Recent agreements have included a first new treatment for sickle cell disease in two decades, and a world-first population-health agreement for ‘cholesterol busting jab’, inclisiran.

Earlier this week, the NHS announced new agreements to expand the use of blood-thinning treatments that could help to avert more than 20,000 strokes and 5,000 deaths.

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