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Leber congenital amaurosis

Leber congenital amaurosis (LCA with mutations in the RPE65 gene) is an eye disorder that mainly affects the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this disorder often have severe visual impairment starting in childhood. Visual impairment tends to be stable, although it can get worse very slowly over time.

Leber congenital amaurosis is also associated with other vision problems, including increased sensitivity to light (photophobia), involuntary eye movements (nystagmus), and farsightedness (inability to see nearby objects clearly). The pupils, which generally expand and contract in response to the amount of light entering the eye, do not react normally to light. Instead, they expand and contract more slowly than normal, or they may not respond to light at all. Also, the clear front covering of the eye (the cornea) can be cone-shaped and abnormally thin, a condition known as keratoconus.


Treatment

Scientists at the University of Pennsylvania discovered that by inoculating a modified virus behind the retina of children suffering from LCA 2 type Leber amaurosis, they were able to improve vision by incorporating the missing RPE65 gene through an adenovirus that acts as a vector. In 2017, the US FDA approved the use of the drug voretigene neparvovec to treat the disease.

Voretigene neparvovec is a medicine used to treat Leber congenital amaurosis. It does not cure the disease, but it can improve the vision of those affected. It is administered by subretinal injection. It is sold under the trade name Luxturna. It is a gene therapy.

This is a treatment for patients who have not yet totally lost their vision, LUXTURNA will prevent the death of photoreceptors, allowing the preservation of visual acuity. That is why time is of the essence, since Abi has not yet completely lost her vision.


Amaurosis congénita de Leber

For Abigail this will be a specific treatment for her condition: Leber Congenital Amaurosis (LCA) with mutations in the RPE65 gene.

The medicine is called Luxturna (https://luxturna.com/) and one dose should be applied to each eye. Only authorized hospital centers with the necessary training and equipment may apply this treatment. Children's Hospital of Philadelphia (CHOP) in the United States is one of them. In that hospital, Abigail's case was evaluated in October 2019 and they gave positive results for said treatment.

This is a treatment for patients who have not yet totally lost their vision, LUXTURNA will prevent the death of photoreceptors, allowing the preservation of visual acuity.

Apart from being one of the first genetic therapies that are available for treatment, Luxturna is a very expensive drug because it is an orphan drug and very new, that is, this treatment is for a rare disease suffered by very few people in the world and therefore its price is so high.

Its application in each eye has a value of US $ 425,000, for both eyes US $ 850,000, plus hospital and transportation expenses.


 

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