A cure for haemophilia is one step closer after ‘mind-blowing’ results from a gene therapy trial, researchers claim.
The condition, which puts sufferers at risk of excessive bleeding even from slight injuries, is currently incurable.
Sufferers of the hereditary condition, which mainly impacts men, ‘have virtually none’ of the protein factor VIII which is needed for blood to clot.
The trial, led by Barts Health NHS Trust, saw 13 patients injected with a copy of the missing gene, which allowed cells to produce the missing factor.
All 13 patients were able to stop regular treatment for the condition, the ‘exciting’ study revealed.
Jake Omer, 29 from Billericay, Essex, who took part in the trial, revealed the gene therapy changed his life and that he now has ‘hope for the future’.
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Jake Omer, 29 from Billericay, Essex, who took part in the trial, revealed the gene therapy changed his life and that he now has ‘hope for the future’
The father-of-two was diagnosed with haemophilia when he was two and has had frequent injections of factor VIII to prevent bleeds ever since.
The life-changing treatment
Speaking about the time he saw ‘proof’ that the treatment worked, he said: ‘The gene therapy has changed my life.
‘It is incredible to now hope that I can play with my kids, kick a ball around and climb trees well into my kids’ teenage years and beyond.’
Eleven have got ‘normal or nearly normal’ levels of the missing protein factor after having their progress followed for 19 months.
Professor John Pasi, Haemophilia Centre Director at Barts Health NHS Trust, said: ‘We have seen mind-blowing results which have far exceeded our expectations.
‘When we started out we thought it would be a huge achievement to show a five per cent improvement.
HAEMOPHILIA: THE FACTS
Haemophilia is a rare condition that affects the blood’s ability to clot. It’s usually inherited, and most people who have it are male.
Normally, when you cut yourself, substances in the blood known as clotting factors combine with blood cells called platelets to make the blood sticky. This makes the bleeding stop eventually.
People with haemophilia don’t have as many clotting factors as there should be in the blood. This means they bleed for longer than usual.
There’s no cure for haemophilia, but treatment usually allows a person with the condition to enjoy a good quality of life.
Genetically engineered clotting factor medicines are used to prevent and treat prolonged bleeding. These medicines are given as an injection.
‘So to actually be seeing normal or near normal factor levels with dramatic reduction in bleeding is quite simply amazing.
‘We really now have the potential to transform care for people with haemophilia using a single treatment for people who at the moment must inject themselves as often as every other day. It is so exciting.’
A snapshot of the results from the gene therapy treatment were posted in the New England Journal of Medicine.
Larger trials are set to commence in the coming months to include sufferers in the USA, Europe, Africa and South America.
Figures suggest there are 2,000 sufferers of the condition in the UK, while estimates state there is nearly 10 times that amount in the US.
It can also cause life-threatening internal bleeding, which in turn can lead to joint damage and arthritis, and there is no known cure for the condition.
A potential game-changer
Liz Carroll, the chief executive of The Haemophilia Society, said: ‘Gene therapy is a potentially game-changing treatment.
‘Despite world-leading treatment standards in the UK many still suffer painful bleeds leading to chronic joint damage.’
But she was full of caution over the results, which showed a striking variation in who responded to the therapy, the BBC reports.
The gene therapy is expected to be more expensive than the current treatment, which sees injected with medicines to help them clot.
Charities claim the cost of the regular factor VIII injections is in the region of £100,000 for every patient each year.