Sunday , August 7 2022

Success in treating a baby with a muscular turf


The Hebron Vall hospital successfully treats a baby with a muscular spinal cord

Doctors Francina Munell (2d) and Alfons Macaya (2i), Vall's Hospital Hebron, along with the daughter of Beatriz and Mariví's mother (i), during the conference a press where it was announced that a little Beatriz, 9 months, had been successfully treated for the first time in Spain with pioneering genetic therapy for the respiratory moments of the baby's back in the presumptomatic period, a pathology for which there was no treatment for it . EFE / Enric Fontcuberta.

The neurologists, Francina Munell and Alfons Macaya, from the Vall Hebron Hospital Pediatric Neurology Service, presented the first treatment results in Barcelona, ​​together with the small patient, Beatriz, of 9 months , (in the preliminary period) and her mother, Mariví.

Y atrophy The back muscle child is a degenerative disease of genetic origin that attacks the spinal cord's neurons and affects one in 6,000 people.

The most severe type of this disease, the type called I type, has a life expectancy that is not more than two years, and the circumstances in which two brothers of & # 39; The baby that has been treated is now dying as a result of this disease.

Dr. explained Macaya, in this case, could be diagnosed inherently, just because both had two children who were previously affected by the same disease.

So, in Hebron's Vall, they performed a genetic test when the mother was pregnant with Beatriz and it was found that the fetus was a confectioner of the mutation in the SMN1 gene.

Until recently there was no treatment for this pathology and now genetic therapy is now against the most serious form of disease, type I, which involves the administration of antisense oligonucleotide that acts on and the SMN2 gene.

"We have a gene of the SMN2 name that does not have important functions, but is very similar to SMN1. This therapy operates on the SMN2 that does very similar to & # 39; The SMN1 gene, so it is replaced in its function and compensates for its lack by producing the necessary protein for motor neurons, "explained Munell.

The baby has received this procedure, which includes a backbone every four months, as it is three weeks old and, at present, has had normal growth and not Has developed any of the symptoms of the disease.

Little Beatriz holds her head, active and begins to catch her legs, as well as trying to hide the song for "Shark Baby" children, as her mother said excited.

However, Macaya has stated that "we need to be careful and follow-up" on the patient over time and in a multidisciplinary manner, with the involvement of experts from the Neuro-Sympathetic Disease Unit, to verify that there are no symptoms; r disease appears. pathology in the future.

This therapy, approved in 2017, has also been applied to other patients with them atrophy back muscle, which, unlike this baby, has already developed the disease and has had symptoms, where it has slowed down the pathology sequence, but it has not "reversed," said Dr Macaya.

"If it is applied to patients who already have symptoms, at the best we can not move the disease, but never reverse", as the neurons can not regenerate.

Munell explained that an international study was underway with other centers to evaluate the effectiveness of alternative genes therapy for this condition, "which will allow the SMN1 gene to be reset in an accurate version and we hope to be able to check its effectiveness very quickly."

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