Regenerative Medicine and Stem Cells Technologies

A genetic drug hailed as 'close to a cure' for the deadly bleeding disorder haemophilia has been given the green light by European health watchdogs.

In trials, a single jab of Roctavian left nine in ten patients symptom-free and no longer in need of the daily injections usually required to control their condition.

Last week the European Medicines Agency, the equivalent of the UK's Medicines and Healthcare Products Regulatory Agency, approved the treatment, opening the door for its widespread use here.

But its price may push it out of reach for NHS patients: The Mail on Sunday has learned it could cost between £1.5 million and £2.5 million per dose, making it one of the most expensive medicines ever.

Dr Rashid Kazmi, consultant haematologist at University Hospital Southampton NHS Foundation Trust, says: 'When the latest Roctavian trial results were announced in March, we were euphoric.

'For it to be approved in the UK, the price is obviously a concern. But haemophilia is a life-long condition, and treating it costs the NHS about £3,000 a month per patient.

'Over decades, this adds up. After a single jab of Roctavian, they can live life as normal.

'It's not a cure, as it doesn't work for everyone, but it's as close to a cure as we've got.'

Haemophilia is a rare disease caused by a genetic fault that means the body has problems producing a protein called factor VIII, which is needed for blood to clot.

The condition, which runs in families, is usually picked up during early childhood and about 8,700 people in the UK are currently living with it. In mild cases, sufferers still produce some factor VIII.

This means they have some ability to form blood clots and may simply experience nose bleeds and easy bruising.

But more than half of patients produce almost none, leaving them vulnerable to brain haemorrhages andspontaneous internal bleeding from their organs.

At present, sufferers keep problems at bay with injections of factor VIII. With Roctavian, also known as valoctocogene roxaparvovec, fragments of the missing genetic code needed to produce factor VIII are implanted into a harmless virus that is delivered into the patient via a drip.

The virus then penetrates the liver and transfers the genes, enabling the body to produce factor VIII for itself.

In the most recent trial, 134 patients were given an infusion of Roctavian. After a year, nine in ten were effectively cured – with normal, or near to normal factor VIII levels. After two years, some had relapsed but 75 per cent were still either mildly affected or completely normal.

Side effects included nausea and headaches, while 86 per cent of patients experienced liver inflammation, requiring them to take oral steroids.

Another downside is that Roctavian is a one-time treatment, and should a patient relapse, a second dose can't be given.

As the drug uses a virus to deliver the genetic material into the liver, the body's immune system creates antibodies that would attack and destroy it should it enter the body again.

According to industry reports, pharmaceutical firm BioMarin, which makes Roctavian, has said it will cost between £1.5 million and £2.5 million per dose.

Experts agreed it was likely to be initially listed at this price, but NHS drug-approval body the National Institute for Health and Care Excellence would be expected to negotiate a substantial discount.

Despite the high price, Dr Kazmi says: 'Given there is so much data about the safety and application of the drug, I think it will be made available in the UK within a year.'

Patient Jamie Murray, 23, from Glasgow, was treated with Roctavian in September 2019 and has been well and not in need of any medication ever since, despite suffering from a severe form of the disease his entire life.

The lighting technician was diagnosed when he was 18 months old and received injections of factor VIII every other day throughout his childhood.

As a result of his condition, he has never played contactsports, had to carry extra medication on him at all times and took additional injections before doing anything that causes bleeding, such as going to the dentist.

He says: 'When I was a kid, there were often tears when it came to having my injections, but as I got older, I didn't know any different.'

In September 2019, Jamie signed up to a Roctavian trial and received an infusion of the drug at University Hospital Southampton.

Afterwards, he continued with his regular factor VIII medication until the levels in his blood began to increase.

He says: 'Within a month or so, I got to the point where the doctor said if I suffered a serious accident, it wouldn't affect me differently to anyone else as my factor VIII levels are that of a normal person.'

Jamie hasn't had a bleed since October 2019, and three years on, his factor VIII levels remain well within the normal range

Despite suffering from mild liver inflammation, for which he took steroid tablets, he says: 'At no point did I regret taking the drug – it never even crossed my mind.

'I hope more people can gain access to it as it's been life-changing for me.'

https://www.dailymail.co.uk/health/article-10975839/Could-haemophilia-cured-new-gene-therapy-costs-2-5million-jab.html