The neuropediatrician and professor at the School of Medicine of the University of Valparaíso affirms that the option of acquiring the drug Elevidys, gene therapy for children with Duchenne Muscular Dystrophy, has ended up conditioning everything related to this issue in Chile.
The case of the boy Tomás Ross, diagnosed with Duchenne Muscular Dystrophy, whose mother Camila Gómez walked from her home in Ancud to the Palacio de La Moneda, in Santiago, with the purpose of making his situation known and raising three thousand 500 million pesos in voluntary contributions, to pay for an expensive therapy that is only available in the United States and that could be of great help to your son, even though its clinical effectiveness has not yet been proven, continues to generate interesting debates about the reality that in Chile faces hundreds of people and families affected by this and other rare diseases and to what extent should the public health system or the State be involved in these types of causes.
The latter became evident this Wednesday, after the woman met with President Gabriel Boric. During the hearing granted to him at the Government Palace, and in which the Minister of Health Ximena Aguilera also participated, the president promised not to charge him the taxes associated with the acquisition of said drug and, in addition, to evaluate some actions aimed at to improve the system of access to high-cost treatments for rare pathologies, including the eventual creation of an organization that promotes timely attention to health technologies with high budgetary impact.
For the neuropediatrician Juan Francisco Cabello, a professor at the School of Medicine of the University of Valparaíso, who is a member of the Advisory Commission on Rare Diseases of the Ministry of Health, in this type of situation there are no absolute points of view or answers but rather multiple perspectives, because beyond the objective criteria that should always be present when analyzing this type of matter, as a human being it is impossible to reason without ceasing to be moved by the anguish and pain experienced by those who suffer from these pathologies, especially when it comes to children.
In parallel, however, this expert in diseases and congenital errors of metabolism maintains that medical duty also obliges him to address these issues always considering the available scientific evidence, precisely to honor that same principle: that of respect, empathy and concern for the patients involved.
“The option of acquiring the drug Elevidys, which has been conceived as a gene therapy for children with Duchenne Muscular Dystrophy, has ended up conditioning everything linked to this case and other similar ones in Chile, since groups of people and even some politicians who learned about its existence from others or read on the Internet that this drug was approved by the Federal Food and Drug Administration (FDA) of the United States, and that it can be purchased in that country, began to advocate for Elevidys to be can also be marketed in our country or, at least, so that the State can acquire it, with a view to supplying it through the public health system,” says Dr. Cabello.
Understandable but wrong approach
The neurologist and professor at the UV School of Medicine affirms that seen this way, this approach gives every patient or family hope and, therefore, it seems reasonable to them, because they assume that a drug that could work would be treated.
“This is understandable and is what we would probably all think or do in the same situation. But that information is inaccurate. And the health authority or the State must be objective when facing it, especially in a country where resources are not plentiful, and even less so in health. Because we must be clear: Elevidys only has accelerated approval by the FDA, given that its true effects for treating a child with this dystrophy are still unknown. The risks or consequences that it could generate and what its potential benefits actually are are also unknown. This being so and given its very high cost, considering the possible option of allocating public resources to the acquisition of a medicine whose effectiveness has not been proven by scientific evidence is counterproductive. I don’t know how many people would be willing, for example, to stop receiving their hypertensive patients in the office to give someone the option of receiving a medication that we don’t know if it works or if it is safe,” reflects Juan Francisco Cabello.
In fact, in October 2023, the manufacturing company of the aforementioned drug declared before the FDA that the clinical trial it was carrying out to test its effectiveness had not had the expected results in terms of motor function, which is why it requested that said federal agency provide a extension, arguing that although they had not achieved the primary objectives defined for that study, they had recorded certain advances in substitute or secondary objectives, such as the expression of the protein they wanted to increase.
“Here is the key. Although the FDA granted an extension until June of this year to that company to finally demonstrate the effectiveness of Elevidys, the truth is that to date the clinical trials to which this drug has been subjected have not been able to prove that improves the symptoms of the disease. In other words, that the patient will not be left in a wheelchair when he turns twelve or that his muscles will not continue to deteriorate, which is ultimately what we are interested in knowing. So far there is no clinical evidence to prove that Elevidys works for symptoms that are relevant to families,” says Cabello.
Meanwhile, and as United States legislation allows, during the extension granted by the FDA this very high-cost medication can be marketed in that country.
The real discussion
Following the previous line, Juan Francisco Cabello suggests that the first discussion that should really be taking place now in Chile on this topic, and in a calm manner, is that until the efficacy and safety of a medicine approved by a foreign regulatory authority is demonstrated recognized, even if it enjoys prestige, it should not be marketed nationally. Even less when it comes to drugs that only have a temporary or accelerated approval.
Secondly, it suggests that the relevance of creating or improving an institutional framework capable of generating better clinical trial designs should also be discussed, with a view to lowering the costs of the final products that arise from them, as long as these studies achieve the primary objectives of research, that is, improving the symptoms of the disease.
In the opinion of Dr. Cabello, it would be a great advance if people affected by rare or uncommon diseases in Chile, for which there are extremely expensive medications or that have not been authorized for permanent use, can choose to participate in clinical studies that are carried out. at home or abroad. “The State must protect those who suffer from rare diseases, but also guide them appropriately when it comes to opting for these types of alternatives, which are real today,” he says.
Faced with this dilemma, the professor at the School of Medicine of the University of Valparaíso finally proposes that instead of evaluating the possibility of acquiring a medication under study, the health authorities or the State could opt to promote or support patients as a country. affected by rare diseases, to participate in controlled clinical trials, where the medicines are provided free of charge by the manufacturer and where the risks and potential benefits are clearly informed from the beginning.
“In fact, in this type of study, a set of documents is usually delivered, hundreds of pages in which it is reported that the drug is in the experimental phase and, by the way, everything that could happen to whoever is given it. , for better or worse,” concludes the neuropediatrician.
