Lucia spoke for the elbows with two years until one day she began to involve: first in language, then in walking. In 2001, after a stack of tests and a lot of confusion, he was diagnosed with a deadly disease called muscle leukodystrophy, a rare ailment that destroys the white substance of the brain and then had no possible treatment. The girl died at age 12.
Today the disease is still uncommon – affects a child of every 40,000 – but things have changed: there is a gene therapy funded by Spanish public health since November. Patients cure whenever applied when there are no symptoms or are very slight. And in this step, the diagnosis, everything is complicated. Although there is an effective treatment, a screening is not implanted that allows it to detect it early in any autonomous community, so when the tests confirm the disease it is often too late for children.
“We have the therapy but not to children to those who apply it. It is frustrating that there is a possibility of diagnosis, a treatment that cures and we cannot access it, ”laments Carmen Sever, president of the European Association of Leukodystrophies in Spain (ELA-Spain) and Mother of Lucia.
According to the data handled by the association, which has 14 minors located in Spain with this ailment, it has only benefited from gene therapy – when it was still in a clinical trial phase, not approved or financed – a child whose brother died due to the same disease. In this case, it was possible, through genetic tests taking into account the antecedent, confirm the strange mutations as soon as he is born and “today is very good,” confirms Sever, who participated recently organized by the Sant Joan de Déu Hospital and the La Caixa Foundation. Eight years have passed since then.
An essay to stop evolution
Aitor and Eneko have turned eight years and are completely dependent: they do not walk or hold or eat alone, but they are alive thanks to a clinical trial, started at the Vall d’Hebron hospital, which delays the evolution of the disease although it does not make it disappear. They were diagnosed at 30 months. The average hope since the diagnosis of this disease is confirmed is not usually exceeding two years.
“When we saw the companions of the nursery of our children by bike and going down the slide we wanted to die, now we have more assumed,” says his mother, Lorea Jurado, on the other side of the phone. They have had to assume that there is a cure that does not work for their children. “When they were born there was no medication, but they did not enter that essay in Italy because we did not have the diagnosis. That would have saved their lives. ”
“It is a fish that bite its tail. We have the most expensive treatment in medicine, but it is only useful when you apply it in presytomatic patients and that today is only possible with a deceased previous brother, ”says Domingo González Damuño, president of the Spanish Association for the study of congenital errors in metabolism (ACOM) and pediatrician at the Valdecilla Hospital (Santander).
The Interministerial Price Commission of the medicines of November 20, 2024 approved the financing of Libmeldy for children “without clinical manifestations of the disease” or minors “with early manifestations that can still walk independently and before the start of cognitive deterioration.” The ministry does not public how much the drug costs, although the cost of departure, at the beginning of health negotiations in 2022, was 2.47 million euros, As published The country.
The Carlos III Health Institute has just granted financing to develop a pilot project, called Cringnes, which will expand the screening of new diseases such as this, predictably, says González Damuño. Until now, to detect a pathology, sensitivity in the screening towards certain biochemical markers is sought; This project is intended to “go directly to a genomic screening” that allows to detect those diseases for which these markers do not exist but treatment.
The doubts about the screening
Aurora Pujol, geneticist from the Bellvitge Biomedical Research Institute (IDIBELL) and a member of the Spanish Association of Human Genetics (AEGH), points out that there are already some experiences in the United States and some European country in the early detection of metamorphic leukodystrophic because “it is technically feasible.”
In Spain, the expansion of the screenings approved by the Ministry of Health does not include this rare disease. “First there must be a therapy for committees to decide that the benefit-risgo concludes that the screening is positive, this point is the one that value the most. And there is and is financed, ”says Pujol. González Damuño has more doubts: “You have to have a score to avoid false positives and this is not always suitable for diagnosis; The predictive value has to be very aquilated. ”
The minors with this disease have mutations in a gene called Arsa, responsible for producing a protein that eliminates complex lipids (sulfátidos). By not doing their activity well, these sulfátids accumulate and intoxicate the brain. They destroy the white substance – which is more or less half of the organ – and peripheral nerves.
How does the treatment act? “It allows to extract blood cells from the bone marrow from the patients, put them in cultivation and infect them with a virus that has the corrected defective gene, then infuse them again,” describes the Pujol researcher. It can be compared with a marrow transplant, but much less aggressive: it is not necessary to immunosupress both patients, there are fewer side effects and the problem of rejection is cleared because they are their own modified cells.
What is happening with Libmeldy, the commercial name of treatment against this rare ailment, reminds previous situations with other gene therapies that generated great expectations. Few, including Zolgensma and Luxturna, have managed to deploy commercially. That it is applicable to so few patients leads the pharmaceutical industry to impose millionaire prices and caution appears by the states when financing them.
Despite the enormous expectations generated, of the 11 gene therapies for rare diseases approved by the European Medication Agency (EMA) since 2012, only two –Zolgensma and Luxurnaboth of Novartis – have achieved a relevant commercial deployment. The rest, for very varied reasons, have failed, have been withdrawn by business strategies or still seek the formula that guarantees their economic viability. “In this case we talk about a great example of scientific progress capable of healing a mortal disease in children,” Pujol Zanja.
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