A teenager suffering from a rare genetic condition has called on the NHS not to reject a ‘miracle’ drug.
Becca Torricelli, 19, has spinal muscular atrophy (SMA), the number-one genetic killer of infants in the UK, which causes disability and respiratory conditions.
Sufferers require round-the-clock support – Becca uses a wheelchair, wears an overnight ventilator and the slightest colds could lead to fatal complications.
Three years ago, a drug called nusinersen, branded as Spinraza, was developed and was trialled by the National Institute for Health and Care Excellence (NICE).
Becca said trialists reported ‘astounding’ results.
“There is no way to describe this drug other than a miracle,” she said.
The trial was stopped early due to the ‘strength of survival benefits shown’, according to the NICE report, but on August 14 this year it was recommended the drug not be made available on the NHS due to uncertainty around long term effectiveness and high cost.
The report esimated a cost of £400,000 to £600,000 per year.
“The entire SMA community are devastated by this decision – we are getting weaker and weaker by the day, and children are dying from this disease,” said Becca.
“To give people hope and then take it away now has been devastating.”
A spokesman for NICE said the decision is subject to public consultation up to September 5.
If the decision is upheld it will not be up for review for three years, a period in which Becca said ‘a lot of people with her condition will die’.
Meindert Boysen, director of the centre for health technology evaluation at NICE, said: “Nusinersen is a promising treatment that has been shown to improve a range of outcomes important to patients. We are actively engaging with Biogen [the drug manufacturer] to discuss how they might address the uncertainties identified by the committee, while demonstrating the potential for nusinersen to be considered cost effective and managing risk to the NHS.”
Liz Ryburn, support services manager at charity SMA Support UK, said the decision process is flawed for rare disease treatments.
“We are as devastated as the families with the decision,” she said.
“We knew it would come because the process it went through isn’t suitable for rare disease drugs. The cost threshold is too low for a rare disease treatment to get through.
“A glimmer of hope is the NHS is working together with the pharmaceutical company to come up with a managed access agreement”
A managed access treatment enables patients to receive new treatments while long-term data on them is still being gathered and before final funding decisions are taken.
“There’s still hope but the community is really keen for people to raise awareness,” she said.
Mr Boysen defended NICE’s decision processes. He said: “NICE believes that our processes do have the flexibility to evaluate drugs for rare conditions and make them available on the NHS – for example, this year we have approved dinutuximab for neuroblastoma and cabozanintib for medullary thyroid cancer. But to do this, we also need flexibility on the part of the drug company.”