Monday, June 27

New gene therapy to prevent blindness caused by inherited retinal dystrophy

New gene therapy to prevent blindness caused by inherited retinal dystrophy

New gene therapy to prevent blindness caused by inherited retinal dystrophy

Noa he is 12 years old. He was born with severely reduced vision due to a hereditary retinal dystrophy. And little by little, as the years went by, his eyes saw less and less, until only retain 3% of your visual ability.

But in recent days, Noa’s vision has improved thanks to a new gene therapy performed, for the first time in Spain, by a team of professionals from the Sant Joan de Deu Hospital in Barcelona.

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The administration of therapy has made it possible to slow down the progression of the disease, has improved your central vision by up to 10% and, especially, has improved his peripheral vision (for example, his ability to ambulate in a twilight and dark environment).

Until now, no treatment was available to combat this disease and people who suffered from it ended up losing their vision completely. Now, Noa no longer needs to read Braille because she can read text in full-length 16 And it can be moved safely in a twilight environment.

The therapy you have received, called Luxturna, contains an active substance, voretigén neparvovec, which acts on the RPE65 gene, one of the mutated genes in some inherited retinal dystrophies.

It’s kind of is responsible for encoding a protein It helps convert the light that enters the eye into electrical signals that are transmitted to the brain and that create the images we see. When the gene RPE65 it has a pathogenic mutation, the protein does not work properly, and the visual cycle is interrupted.

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The RPE65 gene is only involved in two of the diseases that are part of the group of hereditary retinal dystrophies: in some Leber’s congenital amauroses and some retinitis pigmentosa.

That’s why the Luxturna gene therapy can only be applied to dystrophy of retina caused by mutations in the RPE65 gene.

Also, to be effective it is essential that the patient has this mutation in both copies of the gene – that of the father and mother – and that it still has functional retinal cells at the time of receiving the treatment. In other words, still have some vision.

This does not mean that the patients who can benefit from this novel technique have to be children, like Noa. The specialists explain that the age of onset of hereditary retinal dystrophy is variable and can range from infancy to young adulthood.

What is Luxturna therapy?

Well, the protagonist of this treatment that prevents loss of vision is a virus. The therapy consists of genetically modify a non-pathological virus to introduce a working copy of the REP65 gene that, once inside the patient’s eye, replace the mutated, access the cells of the retina that are still alive, encode the healthy RPE65 protein and reactivate the visual cycle.

The genetically modified virus is administered to the patient, by injection, under the retina. The intervention, which lasts about 45 minutes, is done first in one eye and repeated, after a week, in the other.

Due to the extreme complexity of the intervention and the great precision it requires, the medical team that Noa treated first made a preliminary simulation with all the equipment involved in an artificial eye.

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Luxturna is currently the only licensed gene therapy for inherited retinal dystrophies.

Hereditary dystrophy unit of the retina Sant Joan de Deu-Hospital de Bellvitge

The Hospital Sant Joan de Deu in Barcelona is referral center for the treatment of inherited retinal dystrophies. With him Bellvitge Hospital and the association It’s Retina, has created the first unit in Catalonia specialized in the care of this pathology in children and adults.

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Currently, it tracks about 1,000 affected patients both from Catalonia and the rest of Spain. The unit is leading the creation of a care network for patients with inherited dystrophies of retina with the progressive incorporation of hospitals in Catalonia and the rest of the State to improve their diagnosis, follow-up and treatment.

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