Blind children battling rare condition to have their sight restored on the NHS

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The NHS will offer Luxtarna, a life-changing gene therapy drug, to around 100 children and adults with a specific type of gene mutation. It will enable many to see their families properly for the first time


Blind children will have their sight restored on the NHS by revolutionary gene therapy that costs £300,000 per eye.

Until now babies born with retinal dystrophies disorder, a genetic condition that robs them of their vision through childhood, have had no treatment options.

But from January they will benefit from a ‘miracle cure for blindness’ that is delivered in a single jab directly to the eye.

The NHS will offer Luxtarna, a life-changing gene therapy drug, to around 100 children and adults with a specific type of gene mutation. It will enable many to see their families properly for the first time.

The NHS will offer Luxtarna, a life-changing gene therapy drug, to around 100 children and adults with a specific type of gene mutation. It will enable many to see their families properly for the first time

Although only a small number of children will benefit at first, the NHS’s decision to roll-out the treatment offers hope to thousands more Britons with hereditary blindness who could have their sight restored by a new generation of gene therapies.

In trials Luxtarna has been shown to repair a mutation that causes retinitis pigmentosa, a genetic form of blindness that affects about one in 3,000 people.

It is one of the most expensive drugs in the world, with a list price of £613,000 per patient, although the NHS haven negotiated a discount with the Swiss manufacturer.

NHS chief executive Simon Stevens said: ‘Loss of vision can have devastating effects, particularly for children and young people, but this is truly life changing treatment restores the sight of people with this rare and distressing condition.

‘For previous generations, curing blindness would literally have been seen as a ‘miracle.’ Now modern medicine is making that a reality for our patients.

‘Once again the NHS is at the forefront of the genomic revolution with patients in England among the first to benefit from this revolutionary new form of treatment.

‘This latest deal reinforces the benefits for companies willing to engage with us and be pragmatic with their pricing – which is good news for patients, tax payers and industry.’

The drug has until now only been available in the US, but NHS England has reached a deal with manufacturer Novartis to fund the drug, which has been approved by NICE.

Gene therapies work by repairing faulty genes, allowing the effects of inherited conditions to be permanently reversed.

Retinal dystrophies are a group of eye diseases caused by gene mutations which result in the gradual degeneration of the light sensitive cells on the back of the eye. Most children with the disease lose their vision completely in childhood.

WHAT IS RETINITIS PIGMENTOSA? 

Retinitis pigmentosa (RP) is the name given to a group of inherited eye conditions that affect the retina at the back of the eye.

RP causes permanent changes to your vision, but how much and how quickly varies from person-to-person.

Almost all types are inherited, caused by a fault in the genetic information passed down to you from a parent.

The faulty genes cause your retinal cells to stop working and eventually die. This affects your eye’s ability to process the light that enters it.

For most people with RP, the early symptoms include:

  • Difficulty seeing in poor light such as outdoors at dusk or in a dimly lit room.
  • Loss of peripheral vision – this can lead to ‘tunnel vision’

Source: RNIB

The pioneering gene therapy treatment involves detaching the retina and injecting a solution containing a modified cold virus. The virus infects cells in the retina and corrects the genetic defect that causes vision loss.

Luxtarna, the brand name for voretigene neparvovec, only treats patients with a specific mutation in their RPE65 gene, which affects around five newborns a year in the UK.

However, scientists are developing similar drugs to correct the faulty genes that cause eye disorders including choroideremia – which affects 1,200 people in Britain – and retinitis pigmentosa, which affects 16,000.

Sue Sharp, deputy chief executive at the Royal Society for Blind Children, (RSBC) said: ‘We see first hand the devastating effect of childhood sight loss, and so we welcome news of this breakthrough therapy and its impact on the lives of children with inherited retinal dystrophies disorder.’

The treatment will initially be available from three specialist eye centres across the UK, with the option to roll-out the treatment to other hospitals.

Robert MacLaren, professor of ophthalmology at the University of Oxford and Consultant Ophthalmologist at the Oxford Eye Hospital, said: ‘The progression of inherited retinal degeneration caused by RPE65 gene mutations leads to blindness, which has a profound effect on the lives of affected patients and their carers.

‘As a clinician, I believe the true value of voretigene neparvovec is its potential to improve vision in children and adults, and enabling them to participate fully at school, work and in their private lives.’

Meindert Boysen, director of the Centre for Health Technology Evaluation at NICE, said: ‘This is a highly innovative treatment for a very distressing, inherited condition so we are pleased the company has worked with us and NHS England and Improvement to allow us to offer these families hope for the future.’



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