According to the study, which was published in the scientific journal Nature Medicine last Thursday (1), an injection of sepofarsen – a drug used in antisense nucleotide therapy – was enough to infiltrate the patient’s retinal cells, reversing a very specific mutation that causes Leber’s congenital amaurosis (ACL), responsible for causing blindness even in the first years of life. It works as follows: oligonucleotides (short molecules of genetic material – RNA or DNA), after being injected, reach the inside of cells. There, they can bind to their genetic material to reverse the genes responsible for the development of the disease. In the experiment, RNA oligonucleotides were used.
ACL acts in the body preventing the cells from producing the CEP290 protein, which is essential for the functioning of the photoreceptor cells in the eyes, mainly affecting the retina. Then, with the treatment, the material is injected into these cells, which ends up stimulating the production of CEP290 and, consequently, reversing the mutation over the months.
Gene therapy was carried out in 2019, with patients receiving the injection every three months and feeling improved vision, since the supply of RNA oligonucleotides was constant. However, one of the patients decided to give up treatment after the first application, claiming to be afraid of side effects. Luckily, two months after receiving the dose, his vision was restored for more than 15 months, without needing to be reapplied during this period.
The study, then, reveals that the result of this single patient shows that genetic treatments bring more benefits to patients, with longer lasting results and that they can also be more financially taken into account. In addition, it can pave the way for new and promising experiments based on gene therapy.
Fonte: Science Daily
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