Teen angry over 'disgusting' MND drug refusal

A 19-year-old who was diagnosed with a rare form of motor neurone disease (MND) in August has said it is "disgusting" that she is being denied access to a groundbreaking drug.

Lillia Jakeman, of Romsey in Hampshire, has MND with the SOD1 gene variation, which is thought to affect about 2% of people with the condition.

Tofersen, made by Biogen, has been shown to slow and, in some cases, even halt the progress of MND for those with SOD1.

However, it has not yet been approved for use on the NHS by the National Institute for Health and Care Excellence (NICE), and University Hospital Southampton said it did not have funding to provide the drug via the manufacturer's early access programme.

The early access programme is only available if the NHS provides the staff time and resources.

The drug is administered via a monthly lumbar puncture and requires specialist clinicians to be available.

Ms Jakeman now uses a wheelchair

Ms Jakeman said the situation had left her feeling "very depressed and anxious".

"I wake up every morning fearing that I've lost something and if I was to access Tofersen I wouldn't have that fear anymore," she said.

The teen first started experiencing falls five years ago and since then her body has slowly deteriorated.

She has lost strength in her arms and fingers, as well as the ability to walk, and has to use a wheelchair.

Speaking from her bed, she said she believed the drug would stop the disease progressing further.

"It's a life-extending treatment and to deny that to people is disgusting," she said.

"The NHS won't let you live but they won't let you die."

A spokesperson for University Hospital Southampton said: "Like all NHS trusts, we are facing challenging times and are required to live within our financial means.

"While this drug is currently being offered for free by a manufacturer through an early access programme, unfortunately we have not received any funding to pay for the increased service capacity we need to safely deliver this treatment and closely monitor a patient's ongoing progress.

"We have therefore made the difficult decision that we are unable to provide Tofersen at this time, because doing so would mean taking resources away from other patients.

"We understand this will be deeply disappointing to families affected.

"The trust will work towards being able to offer this treatment as soon as possible, if and when it is approved by NICE and funding is made available from NHS England."

Since Tofersen was made available through the early access programme, some patients with the SOD1 gene variation around the country have been given the treatment at other hospital trusts.

'Absolutely devastating'

Alex Massey, from the MND Association, said: "This drug is showing effects we've really never seen before in MND in slowing down the progression of the disease and allowing people to live longer."

He said many people had seen their condition stabilise but there was unequal access to the treatment across the country.

"It's absolutely devastating for those people who are missing out and for their families," Mr Massey said.

More than 20,000 people have signed a petition calling on the government to make the drug available for everyone with the gene variation.

An NHS spokesperson said: "While this drug is currently being assessed by NICE, many NHS hospitals have worked hard to identify the extra staff and resources needed to deliver the manufacturer's early access programme and safely provide Tofersen to as many eligible patients as possible.

"We encourage the manufacturer, Biogen, to commit to complete the NICE appraisal process, which is the only opportunity for the drug to be recommended as a clinical and cost-effective treatment that the NHS can offer to every eligible patient in England."

In a statement Biogen said it was "committed to playing our role in ensuring tofersen is routinely available on the NHS".

"This will require flexibility on all sides as only about half of approved rare disease medicines are reimbursed in England," it said.

"We have been engaging with representatives from NICE and NHS England to maximise the opportunity for a successful outcome and are awaiting feedback."