NICE has recommended a treatment for children with the rare genetic disorder spinal muscular atrophy (SMA). They can now be treated with nusinersen following the agreement of a deal between the company, Biogen, and NHS England.

SMA affects the nerves in the spinal cord controlling movement. This causes muscle weakness, progressive loss of movement, and difficulty breathing and swallowing.

People with the most severe forms of SMA usually die before the age of two years. There are currently no active treatments targeting the underlying cause of SMA so the condition is managed through supportive care that aims to minimise the impact of disability, address complications and improve quality of life.

SMA charity apologises as 'time matters so much'

The charity SMA UK apologised to the families of children with SMA and said: "We are only sorry that it took so long when time matters so much: for the families with infants with SMA Type 1 who have had no access to treatment since 1st November 2018; for families and adults who have desperately wanted to have the opportunity to see what potential this treatment might have for them; for the clinicians who have been so frustrated by their lack of power to offer it."

It is estimated there are between 600 and 1200 children and adults in the UK living with SMA, but NICE had previously not been able to recommend nusinersen for routine use because of uncertainties over its long-term effectiveness and its high cost.

The treatment will be made available to the youngest and most severely affected (SMA type 1) patients immediately by Biogen, with NHS England offering funding on NICE’s publication of final guidance next month.

For older babies, children and young adults with less severe symptoms (SMA types 2 and 3), the NHS will begin to roll out nusinursen shortly after NICE’s guidance is published.

Nusinersen is a promising treatment

Meindert Boysen, director of the Centre for Health Technology Evaluation at NICE, said: “We are very pleased that we can now recommend nusinersen for people with SMA.

“The committee has recognised that nusinersen is a promising treatment that has been shown to improve a range of outcomes important to patients. But it also recognised that there are significant uncertainties, particularly around its long-term benefits.

“All along we have felt it important to give all parties every opportunity to try to find a way to mitigate these uncertainties in order to make nusinersen available to patients in England.

“Today’s announcement shows that, where companies show appropriate flexibility, it is possible to find a way to provide important treatments to patients in a way that is cost effective for the NHS and taxpayers."

There have been no trials of nusinersen with anyone who has SMA Type 4 which is why adults with this adult onset form are not included in the agreement.