Spinraza: SMA patients win fight over treatment loophole

A young man with a rare muscle-wasting disease can now be given a life-changing drug after rules were changed.

Jake Ogborne, 20, from Bristol, has Spinal Muscular Atrophy (SMA), a genetic disorder which causes severe decline in mobility.

He was ineligible for the drug Spinraza because of rules from regulator Nice, which required him to have walked in the previous 12 months.

However, a data review has concluded this criteria should now be removed.

Mr Ogborne told the BBC it was "incredible news" and "such a long time coming".

"It still hasn't really sunk in... it's such a shock, and the best possible news we could have hoped for, and now it's onto finding a hospital where I can get it administered."

Mr Ogborne lives with his family in Brislington, Bristol and has Type-III SMA.

When the UK approval of Spinraza was announced by NICE in May 2019, he and his family held a party to celebrate.

However, a few weeks later, they were distraught to find out that only Type-III patients who could walk five steps or who had lost the ability to walk in the last 12 months, would qualify.

Mr Ogborne said it was frustrating that he had seen a decline in his mobility since 2019, however the announcement was "better late than never".

"Since it was approved and then taken away, my mobility has decreased a fair bit; I can't drive anymore, I'm no longer in a manual wheelchair... eating is more difficult, swallowing, just general strength decrease."

Although Spinraza is not a cure, studies have shown potential for the drug to slow the effects of SMA.

He has received support from MPs in his fight for access, and in September Mr Ogborne and his family were featured in a BBC documentary speaking about their battle.

His mum Kate said she had "tears of joy" upon hearing the decision and that organisation TreatSMA had been "incredible" in helping to change the criteria.

They added that Jake's consultant was reviewing whether it would be possible for him to receive the treatment in Bristol, or if he would need to travel to Newcastle for this.

Nice deputy chief executive, Meindert Boysen, said that at the time of approving Spinraza "we made a commitment that we would review new evidence on the potential benefits of nusinersen for type III SMA patients who are not currently receiving it.

"We are therefore pleased that the review has concluded that it is appropriate to extend the clinical eligibility criteria."

John Stewart, the national director of specialised commissioning at NHS England, John Stewart, said: "It is fantastic news that the NHS is now able to offer many more patients this potentially life changing treatment - the first of its kind to tackle the causes of spinal muscular atrophy."

Nice advised that the changes will take effect immediately with the development of extra service capacity to deliver the treatment currently under way.

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