Interviews
Mario Chiong: "There is a bill to finance the treatment of rare diseases"
- June 13, 2024
- Publicado por: ACCDIS
- Category: ACCDiS in Media
At the end of April, the story of Tomás Ross became known (5), who was diagnosed with Duchenne muscular dystrophy. For this reason, The minor must undergo a treatment that costs more than 3 billion pesos. Her mother's journey, Camila Gómez, By publicizing the case and raising the money, shocked the country. Mario Chiong, academic at the University of Chile and researcher at theAdvanced Disease Center (ACCDiS ), Explain what this disease is all about.
Chiong is a biochemist and doctor of pharmacology, his line of research being the study of cardiovascular diseases, particularly in cardiomyocytes, which are the cells of the heart muscle capable of contracting spontaneously and individually. For more than 20 years he has been working with genetically modified viruses, Therefore, know perfectly the case of Tomás Ross.
"When I did my undergraduate thesis, it was already known that recombinant human proteins could be manufactured, i.e., by genetic engineering, to treat diseases. And there the prototype was recombinant human insulin. And this Genentech company appears, which describes the cloning and production of human insulin, but now in a bacterium, theEscherichia coli. And that marked a paradigm shift in pharmacology." MARIO CHIONG, ACADEMIC OF THE U. FROM CHILE.
He points out that his research began to lean towards cardiovascular diseases because in Chile, A third of the population dies from these diseases. "It is a very relevant medical problem. And I was able to work on a very particular problem, that has to do with the cells of the heart, Called cardiomyocytes, that once people are born they never proliferate again. Therefore, the idea is to be able to develop a pharmacological therapy to prevent them from dying", Comment toRockstars.
By the same, In his doctoral thesis he began to manufacture and use recombinant viruses. "In fact,, I took animals and introduced viruses to genetically modify their hearts, to test whether those viruses or modifications could confer resistance to death", explains Mario Chiong.
A miraculous walk
Camila Gómez, Tomás' mother, She walked thousands of kilometers to make her son's illness visible and to be able to achieve, In addition, The money for expensive treatment. Duchenne muscular dystrophy causes progressive weakness of the muscles, which directly impacts the independence of those who suffer from it. The life expectancy of people who suffer from it is 30 years.
But there is a treatment, which is done only once per individual. "Just so people know, these children are born completely normal. But they have a mutation of a protein called dystrophin, that is located in the muscles and helps them to contract when they contract, the membrane that covers them does not break", comments. But in the case of Thomas or the children who suffer from the disease, The dystrophin is missing or there is a portion of it that is not functional.
Mario Chiong points out that children begin to progressively lose muscle mass as they age. In fact, at 10 or 12 years old, designates, they can no longer walk. "Later, at age 20 or 25, The diaphragm stops working, they have to be intubated and 100% die before they turn 30 years old", explains.
For this reason, and that is why the high cost, The pharmacological strategy to treat this disease is that people must be exposed to a virus, Carrying Microdystrophin, and that it must reach all the muscle cells in your body. "We are talking about a gigantic number of viruses that are applied to the blood and through it are distributed throughout the body. Now, The adenovirus used has a special affinity for muscle tissue. I mean,, does not infect brain cells equally; but it infects mostly muscle cells", details the academic.
Chiong also indicates that this virus should be used in people with proven safety. I.e., that does not produce any harmful side effects. "That makes it impossible for it to be clinically occupied. It is a study that took a long time. There's a lot of lab work. And this drug, once produced, is used only once.", Adds.
At last, The doctor and researcher says that there are other diseases, such as spinal muscular atrophy, who also do not have state coverage. How is he, There are other diseases, Rare calls, that it does not have Fonasa coverage and that the Ricarte Soto Law does not estimate. "There is a discussion, A bill to fund the treatment of rare diseases. Part of the regulation is to provide drugs at no cost to diseases that are disabling and that people have no way to afford and that, Therefore, the Ricarte Soto law obliges the State to finance them", Sentence.
Read article hereHTTPS:txsplus.com/2024/