Fri. Apr 19th, 2019

From affected to discoverers of a treatment | Society

From affected to discoverers of a treatment | Society



In his 31 years of life, José Julián Martínez has been published several times in scientific journals, although he has never been mentioned by name. At first he was just a subject of study. Later, he and his father, José Luis, played a much more important role: being the first to propose and try a treatment that has managed to stop the infrequent disease what's wrong with it.

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This is called tyrosine kinase 2 deficiency, and the neurologist at the hospital 12 de Octubre de Madrid Cristina Dominguez-Gonzalez explains that it is the failure of the process by which they form "the bricks of mitochondrial DNA", which are those famous four letters of the genetic code (a, c, g, t). As the mitochondria are intracellular organelles that are responsible for supplying the cell with energy, when this fails, different forms of muscular weakness appear: the myopathy that the patient was diagnosed with so little precision in 1991 in Paris, when his parents started visiting specialists. from Spain and abroad when he saw that his three-year-old son was having trouble running and getting up, says his father.

Specifically, of the four letters (scientifically called nucleotides), two fail, thymidine and cytosine. But to reach that conclusion they had to make a long journey. "José Julián was progressively getting worse, he was walking with difficulty, as the disease does not affect intellectual development, he studied with a good record", says José Luis Martínez.

In one of their attempts, they contacted Salvatore DiMauro, of the University of Columbia (New York), but this one, according to the father, advised them to go to a Spaniard who had worked with him: Antoni Andreu, who was then in the Hospital Vall d'Hebron (Barcelona). "Toni told us that he did not have the resources to investigate," he recalls. So the family set up the Foundation for the National Muscular Disabled (Fundismun), "with four or five million pesetas of the time [de 24.000 a 30.000 euros]"Thus, the diagnosis of tyrosine kinase 2 deficiency was reached.

But knowing what was wrong with his son was not enough. It was "around 2001, and his situation had worsened a lot." At the age of 13, "José Joaquín had stopped walking, was in a wheelchair." Urge to find a treatment, and DiMauro sent them another key name in this journey, the Michio Hirano, also at Columbia. "He was at home and we wanted him to start work to find a remedy. He told us that the first thing he needed was to get a transgenic mouse with the same mutation. And funds for that. "The family paid another 120,000 euros.

"In three or four years the mouse was obtained", and in 2011 the trials of a treatment began. The approach seems simple: if the defective enzyme was used to make two of the four letters of the genetic alphabet, C and T, they were fed. And his life expectancy doubled.

In a less unusual story, they would spend years trying the treatment. But the Martinez family could not wait. "At 23, José Joaquín weighed 23 kilos, had pressure sores, bone lesions, and the researcher was reluctant to shorten the deadlines, to risk the safety of the trial, so the family moved in. He found a Chinese laboratory that manufactured the compounds , and began to buy them. "There was a first shipment, a second ... And José Joaquín started earning a kilo a month. At one year he weighed 34 kilos, and his muscle weakness had improved somewhat. Their deterioration stopped. "

There was only one problem: the treatment was very expensive. It cost 15 dollars (about 13 euros) per gram of each product, and the dose I needed was increasing precisely because I was getting fat. They were already going for 600 euros a month. "In November 2013 we had finished the savings," recalls the father.

Neurologist Cristina Domínguez-González entered her life then. In January 2014, he put them in a clinical trial. They no longer had to buy the nucleotides (the generic name of the C and T molecules that they needed). But at the end of the year, the hospital committee asked them to demonstrate "an obvious improvement" to continue the trial. And José Joaquín did not back down, but it did not improve. "We were stuck," recalls the father.

Then, it occurred to him to ask the Vall d'Hebron to do a study of what happened to the product when it was ingested until it reached the mitochondria. And they saw an interesting point: in truth, although they gave the C and the T finished to eat (the nucleotides), in their blood they decomposed in a previous stage, the so-called nucleosides, which cost 90% less. So they proposed to Hirano to try to take the nucleosides instead of the nucleotides. The Columbia researcher did not see it clearly. It took a year to answer.

Domínguez-González recalls that "the family took the risk". After the case of José Joaquín, there are already about 20 affected people identified in Spain. Most are children. "They not only stop the disease, they arrive completely prostrated, and in two or three years they are running and jumping, this is the treatment that is now taking place all over the world", says José Luis, happy after so much effort and although for his son, who is still in a rehearsal at the hospital, he has arrived somewhat late.

The story still has an epilogue. A pharmacist has bought the patent. Increase essays and articles. The name of the Martinez family will never appear on them. But many will be based on their history.

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