Revolutionary cure for crippling condition that kills toddlers before their second birthday wins $3million ‘Oscars of Science’ prize (but it’s still not available on the NHS)
- Spinraza can help spinal muscular atrophy sufferers regain their strength
- It is available in the US but the NHS won’t fork out the £450,000 for the drug
- Doctors say it is ‘unthinkable’ children in this country can’t have the therapy
- It has been proven to work in children and help rebuild their muscles
Children under the age of two are dying of a curable disease because the NHS won’t buy the new ‘wonder drug’ which can stop it, doctors say.
The creators of Spinraza, which is proven to cure spinal muscular atrophy, this week won a $3million (£2.29m) prize for their life-saving work.
And medics say it is ‘unthinkable’ that health bosses in the UK refuse to pay for the £450,000-a-year drug which could help the 1,300 Britons estimated to have SMA.
The worst form of the muscle wasting condition – type 1 – affects one in 10,000 children and kills them all before their second birthday, experts say.
But the regulator deciding which drugs the NHS can buy says not enough is known about the medicine, Spinraza, for the health service to fork out for it.
Spinraza works by targeting the faulty gene which causes SMA and changing the way the body reacts to DNA, making it build more proteins which can develop nerve cells and regain muscle strength
Professor Kevin Talbot, a neurology expert from the University of Oxford, says it is ‘unthinkable’ that the UK won’t pay for the drug and that patients should be given it.
‘This is a disease that is uniformly fatal in its most severe type,’ he told The Times. ‘By the age of two years it kills 100 per cent of children. With this drug, 100 per cent live.
‘It’s the beginning of a revolution in complex neurological genetic diseases that were untreatable. This is a new era of medicine.
-
Viagra of the mind? Hope for men with low libidos as a ‘kiss…
Your burger may be increasing antibiotic resistance: Almost…
How tuberculosis was spread by early European explorers:…
Simple test that takes less than ten minutes can tell…
Share this article
‘One way or another we need to find a way to give it to patients.We are the last developed nation to license this; that is unthinkable.’
The creators of Spinraza this week won the $3million (£2.29m) Breakthrough Prize, sponsored by billionaire entrepeneurs including Facebook founder, Mark Zuckerberg. It is dubbed the ‘Oscars of Science’.
And there have been numerous case studies of children doomed to die from crippling spinal muscular atrophy (SMA) who have recovered after taking Spinraza.
SMA is a genetic condition with which children are born, and in its severe forms it damages nerves and causes muscles to weaken until the child can no longer move or breathe.
Symptoms include floppy or weak arms and legs, difficulty sitting up, crawling or walking, swallowing problems and breathing difficulties.
Spinraza works by attaching itself to the gene which is causing the nerve and muscle damage and effectively repairing it so the body is sent the correct signal by DNA.
As a result the body makes more of the protein need to build nerve cells, which makes muscles grow stronger and nerves work better.
BOY’S ILLNESS ‘MADE HARDER’ BY KNOWLEDGE OF WONDER DRUG
George Lockley, eight, from Hertfordshire, suffers from spinal muscular atrophy (SMA) and has been weakened by it since he was an infant, losing strength in his limbs and torso.
Although he was born apparently healthy, when he was around eight months old his mother, Liz, noticed his leg and neck muscles were weaker than those of his twin brother, Harry.
Genetic tests just before George’s first birthday revealed he had SMA – not type one, which is fatal in infancy, but severe enough to disable him – and he began to get weaker.
George Lockley (right) was diagnosed with spinal muscular atrophy before he was one year old and cannot be treated, leaving him much weaker than his twin brother, Harry (left)
‘It is incredibly painful watching George struggle and get weaker,’ Mrs Lockley told the Daily Mail in February. ‘But knowing there’s a drug out there that could stop this happening has made everything much, much harder.’
Evidence suggests the earlier Spinraza is given, the more effective it is.
At six, George’s spine was straight. In the past 12 months, despite regular physiotherapy and a spinal brace, he has developed a 35-degree curvature.
And with every growth spurt the curve will increase, because his steadily weakening muscles cannot support his increasing weight. Liz is under no illusion that Spinraza is a cure, it isn’t, but it could help George retain some strength.
‘One of the worst aspects of SMA is that George can’t cough effectively so a chest infection could kill him,’ she says. ‘If Spinraza could give George the ability to cough effectively then SMA would no longer be such a threat to his life.’
It has been proven to work, but the UK’s National Institute for Health and Guidance (Nice), rejected the drug in August.
It said there were uncertainties about the long-term benefits of the drug, so it could not justify the ‘extremely high’ cost – estimated at £450,000 per child for a year.
When Nice’s guidance was issued four months ago, its director of the centre for health technology evaluation, Meindert Boysen said: ‘[Spinraza] is a promising treatment that has been shown to improve a range of outcomes important to patients.’
But she added: ‘The very high cost meant [Nice] could not recommend the drug as a cost-effective use of NHS resources.’
The medicine is available in the US and the manufacturer, Biogen, offered it to some British children as part of an access programme, but that is coming to an end.
And the decision not to offer it on the health service will affect the parents of children born with SMA for the rest of their lives, says Professor Adrian Krainer, a prize-winning creator of the drug.
Professor Krainer said: ‘They should keep in mind that this is the only approved treatment, patients are deteriorating without it.
‘While there are discussions, patients are waiting and deteriorating and dying.’
Nic Bungay, director of campaigns, care and information at Muscular Dystrophy UK said: ‘SMA is a life-limiting rare condition and patients desperately need access to Spinraza – the first and only treatment for this devastating condition.
‘Without it, babies with the most severe form of SMA are likely to die, while others will irreversibly lose the ability to walk, crawl, breathe and swallow.
‘Spinraza is an award-winning drug, yet NICE is denying patients access.
‘It’s crucial that the drug manufacturers, Biogen, and NHS England negotiate on the price of the treatment.
‘NICE also needs to look at its appraisal processes, which are clearly not fit for purpose when it comes to assessing treatments for rare conditions. Failure to come to an agreement will impose a death sentence on many infants.’
BROTHER AND SISTER REGAIN THEIR STRENGTH WITH SPINRAZA
Ruby Sun, age six, and her brother Landon, three, have spinal muscular atrophy (SMA), which kills more infants than any other genetic disorder.
But since the pair, from Milwaukee, Wisconsin, began getting treatments of Spinraza, in July, Ruby and Landon have already begun to make remarkable progress.
Ruby and Landon will have to have Spinraza injections for the rest of their lives, but a gene therapy in clinical trials could stop the disease in its tracks with just one shot.
Ruby Sun, age six (left) and her three-year-old brother, Landon (right) both have spinal muscular atrophy, a genetic disease that kills more infants than any other and has weakened Ruby and Landon so drastically that they could not walk. But, since they started a new treatment in July the children have made astounding progress
Ruby was just over a year old and had just started walking when she began to fall over very often and became weaker. By the time she was diagnosed with spinal muscular atrophy she couldn’t stand up.
For years she has relied on a wheelchair to get around, but since being given Spinraza she has regained the ability to crawl on her knees, gets less tired, and can walk in a swimming pool.
And her brother, Landon, who had to be surround by pillows when he was sitting up in case he fell over, is now sitting up without falling, has much better torso control, can reach for things, and has started kneeling again, their mother Danyelle says.
‘They’re very proud,’ Ms Sun said. ‘We joke around the house, whenever they do something really impressive, or exciting, they’ll say “hashtag Spinraza goals!”’
Source: Read Full Article