2023-12-18 12:37:45
CRISTINA G. LUCIO
Madrid
PHOTOS: JOS AYM
Updated Monday, December 18, 2023 – 11:37
Podcast The drug that corrects errors in DNA: why genetic editing is a revolution? Health The European Medicines Agency recommends authorizing the first treatment based on CRISPR gene editing technology
Mara El Atellah Chakib does not remember a life without pain. Wherever you go, it is always there, threatening, that pain that arrives without warning and is capable of gripping and completely paralyzing your body. “I have had crises due to such everyday things as walking near a freezer in the supermarket, changing from the shade to the sun on a walk, being very tired, due to stress… And they are so intense that they only subside if they put me under stress.” morphine at the hospital. In fact, it is necessary to always carry a dose recommended by the doctor in your bag in case the pain appears suddenly,” he says. “It’s something that marks you. You modify your habits, your routines to try to avoid it. I have not had a childhood or youth like anyone else’s. “I haven’t been able to travel, go in, go out… always thinking about whether I’m going to get sick.”
This ordeal that Mara recounts is due to the sickle cell disease who suffers, a genetic disorder which, among other problems, causes your red blood cells become sickle-shaped, half moon. This alteration is important because it reduces the ability of red blood cells to transport oxygen and, in addition, causes blood vessels to become clogged and occluded, generating tissue damage and acute episodes of paralyzing pain that she describes. The risk of suffering a serious complication, such as pulmonary infarction What María surpassed at 25 years old is very high.
María, who arrived in Spain from Morocco 20 years ago, has always lived with that sword of Damocles over her head. Under constant threat. But despite everything, she has managed to make a life for herself and develop her professional career as a civil engineer. “With many sacrifices, yes,” she emphasizes.
From a very young age, he assumed that “there was no alternative and that he had to learn to live with the disease because it was for life.” However, science just demolished that mantra that patients like Maria had engraved in his head. There is already a therapy, based for the first time on the tool of CRISPR/Cas9 gene editingwhich allows the genetic error that causes the disease to be corrected.
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The European Medicines Agency recommends authorizing the first treatment based on CRISPR gene editing technology
Editorial: CG LUCIO / CG REAL Madrid The European Medicines Agency recommends authorizing the first treatment based on CRISPR gene editing technology
Developed by the companies Vertex Pharmaceuticals and CRISPR Therapeutics, the treatment, called Casgevy (exa-cel), has received the approval of the regulatory agencies of the United Kingdom and the United States and is expected to also arrive soon in Europa. The European Medicines Agency (EMA for its acronym in English) recommended this Friday its authorization in the EU and although the procedure requires that the European Commission green light for marketing, the truth is that the camera usually always follows the recommendations of the experts. Afterwards, each country must give its particular approval and negotiate with the pharmaceutical company the prices for its financing.
Basically, the treatment consists of extract stem cells from blood from the patient himself that are genetically edited in the laboratory to silence the gene BCL11A, which allows these patients to produce functional red blood cells. After eliminating all the defective hematopoietic cells from your body, the cells modified in the laboratory are infused back into the patient so that they replace the damaged ones and can fulfill their function without causing problems.
How does the drug work?
“The genetic modification which is carried out causes the resulting red blood cells to have a high amount of fetal hemoglobin. As its name indicates, this hemoglobin is the predominant one in the fetus, but after birth it stops being produced in favor of hemoglobin A, which is defective in the case of patients with sickle cell disease. “Silencing the BCL11A gene reverses the change and increases the production of fetal hemoglobin, which replaces the defective one and is functional,” explains Salvador Payn, hematologist at the Virgen del Roco Hospital in Seville.
In the clinical trials performed, 28 of the 29 patients with sickle cells treated and followed up for at least one year have not suffered further pain crises nor have they had to undergo the transfusions that are common in this type of patient.
“What the trials show is that the therapy cures the disease”, points out Marta Morado, hematologist at the La Paz Hospital in Madrid and general secretary of the Spanish Society of Hematology and Hemotherapy (SEHH). “It represents a paradigm shift.”
Like Mara, Antonio Arenas He has lived a true journey of the cross throughout his 47 years of age. In addition to the anemia and the terrible pain crisishas had to undergo surgery several times due to the damage that the disease has caused to his body. “I don’t have a spleen or gallbladder and I’m about to need dialysis because my kidneys are already very affected.”exposes this extreme that presides over the Spanish Sickle Cell Disease Association (ASAFE), an organization that works to give visibility to this rare disease and is already preparing to ensure that, if the drug is approved, it can reach everyone in our country. The treatment is among the most expensive in the world: it has just been set in the US at 2.2 million dollars per patient. “We know that the cost can be a stumbling block but it is necessary to find a solution. For many people this means seeing the light at the end of the tunnel,” emphasizes the president of They will not die. It is estimated that in Spain there are about 1,600 affected by this rare disease.
They also wait hopefully for the arrival of the frmaco patients affected by transfusion-dependent beta-thalassemia, another hematological disease that could benefit from the arrival of Casgevy. In the United Kingdom, the indication for treatment for this disorder has already been approved and EMA It also includes it in its authorization recommendations.
“Both diseases, betatalasemia transfusion dependent and sickle cell disease They are diseases hereditary and serious from hemoglobin. Both have a genetic origin in the gene for the beta subunit of hemoglobin, although they manifest themselves very differently,” explains Payn. “People with transfusion-dependent beta-thalassemia do not produce hemoglobin A or produce very little of it, so need to be transfused several packed red blood cells every three to four weeks throughout their life“.
“I am alive thanks to transfusions”
You know it well Secundino Sacristán, who has been living with the disease for 59 years. He is very clear that he is alive thanks to the two bags of blood that they give him every three weeks in the hospital, but he also suffers the consequences caused by the iron accumulated in the body due to those transfusions constants. “70% of us die from heart failure. There are treatments to eliminate part of that iron, but little by little it accumulates in the organs, such as the heart, and damages them,” explains this Valladolid native.
To sus 31 at, Juan Andrés Prezhas a significant accumulation of iron in your body so, in addition to various oral medications, he has to undergo a intravenous therapy which requires him to spend eight hours on a stretcher three days a week. This Jerez native combines treatment as best he can with his work as a receptionist and has become accustomed to living a life always close to the hospital. “Gene therapy was unthinkable not long ago. And now it is a reality. Maybe for me it will no longer be, because maybe my body could no longer handle it, but it has to reach those who need it because with this disease there is a lot of suffering.” “claims Sacristán, member of the board of directors of the Spanish Association for the Fight against Hemoglobinopathies and Thalassemias (ALHETA), which estimates that about 200 Spaniards with beta-thalassemia could benefit from the treatment.
As explained by the hematologist Marta Moradotoday the only option that allows curing both the sickle cell disease as the betatalasemia transfusion-dependent is the transplantation of allogeneic hematopoietic progenitors, which is usually known as bone marrow transplantation. “However, This therapy is limited to few patients due to the need to find a suitable donor and the risks it poses,” says the expert, who clarifies that this approach can above all be applied to children and adolescents.
The rest of the patients with both ailments can benefit from therapies and drugs that allow us to alleviate to a certain extent the ravages caused by diseases – for example hydroxyureain the case of patients with sickle cell disease, allows to stimulate the production of fetal hemoglobin and reduces the number of crises – but none completely eliminates the disorders.
There are others gene therapies also authorized to reach the clinic, but the approval in the US and the United Kingdom of the first therapy based on CRISPR/Cas9 technology, also called genetic short paste because it allows DNA to be edited, has meant a true revolution that goes beyond these first indications.
“Basic research is at the origin of this therapy which has now been approved in the US and the United Kingdom for these hematological diseases but it will undoubtedly be expanded to many more disorders“says Llus Montoliu, a researcher at the National Biotechnology Center who was a pioneer in the use of this technology in Spain. “Science has managed to solve these diseases and we are going to solve others in a similar way.”
The scientist, however, is concerned about the limitation for the access to these therapies caused by high prices. “The problem is no longer scientific or technical, but economic”, Montoliu emphasizes. “Without a doubt we need companies to produce medicines in a safe and robust way, but it must be possible to combine the legitimate right that the company has to be compensated for the investment made with a reasonable price that can be financed by national health systems. Every year around 400,000 people are born in the world with sickle cell disease most of them in Africa. We have to reach some kind of agreement so that the new therapies reach both those in New York and those in Tanzania. Otherwise it would be violating a key principle in bioticsthat treatments are accessible to those who need them, not to those who can pay for them.
The researcher of National Biotechnology Center He closes with a reflection: “I always say that there is only one thing worse than having a child with a rare disease: having a child with a rare disease, knowing that there is a therapy to cure it and not being able to access it.”
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