“A small strand of blood in a tube.” This was the first mark, which was initially seen as unimportant, which laid Jesús Lunar and Cristina López on the path that something was happening with their son’s health. Javier was born on June 12, 2020, and before the discovery, which occurred a few days later, everything was following the chaotic routine imposed by members of any family. Six months later, the doctors sat the couple and gave them the news that would have changed their lives.
We were told that Javier has the Wiscovers syndrome, a rare genetic disease that affects the immune system. Initially, we did not know how to respond, it was difficult for us to accept it might be fatal. But then something clicks in your head. You tell yourself that you must continue and that everything to do will be done. “It was this day,” says computer programmer in 1982.
Omar Javier is now nearly five years, and neglected some minor neurological problems, it has arisen like any other child. Not only did he treat him, but he was also in the center of a double revolution. The first was scientific, with the development of genetics. These treatments were able to replace the defective gene for the patient with a healthy experiment that is inserted into the body using a virus modified in the laboratory. Javier is the first child in Spain to overcome Wiskott-Aaldrich syndrome (was) using this procedure.
The truth is that although they had to pass, the family was very fortunate. Or, in other words, the flag reached the rescue at the last minute. The only therapeutic therapy for these children is bone marrow transplantation. But there was no compatible donor, neither in their family environment nor at the Josep Carreras. Without a transplant, these children rarely reach adolescence and do not survive at the age of twenty from clinical immunity and specialist at the Reina Sofia Hospital in Cordoba, which dealt with his case.
The second revolution in which the child participated affects the drug market. Innovative treatments do not reach many patients they need. The high prices imposed by pharmaceutical companies, and commercial strategies of companies and organizational issues often become uninterrupted obstacles. Javier’s treatment was about to lift forever in the middle of the road through development because Orcharutics of Orchard Pharmaceutical company does not see a feasibility of a treatment for a condition that affects less than one in every 250,000 male children who are alive.
TELETHON (FT), associated with San Rafael General Hospital in Milan (Italy) – where research on medicine has started more than 15 years ago -,,,,,, Save Treatment. The entity with the company agreed to take over and complete the development of treatment, and on February 3, it announced that it had requested approval from the European Pharmaceutical Agency (EMA). It is the first non -profit entity in the world to take this step with genes, which is also planning to do with the FDA. The step of this type has only one similar precedent, which is the Clinic Hospital in Barcelona with car treatments against some types of leukemia.
“We hope that other similar institutions will follow our progress. We do not want to be the only ones and believe that our experience can be a model that must be followed in developing innovative treatments for rare diseases that affect a few patients to the extent that the pharmaceutical industry is not interested in investing in it,” Celeste told Scotti, Head of Research and Development, El País at the entity’s headquarters in Milan.
Scotti recalls that the institution has already taken an important step by maintaining another genetic treatment of the garden in the market, Stim exptelis, referred to due to acute immunodeficiency in the Ada-SCid, which is another very rare genetic disease that affects what is called for What is it Bubble children. But this issue represents an important qualitative leap. The StimVelis has already obtained the approval of the EMA, while we are now the ones who have completed the development of treatment and requested the approval of the organizational bodies. “
The cause of Wiskott-Aaldrich’s syndrome due to a boom in a gene responsible for producing protein is necessary for the work of the immune system cells. This gene is located on the X chromosome, so the disease always affects children, as with blood. In women, due to the presence of two X chromosomes, a healthy gene can replace the defective gene on the other hand, although if they have a son, there is a 50 % chance to transfer the disease to him.
These are children who, without treatment, have an average life expectancy. It is a complex disease that must be diagnosed, which requires a genetic confirmation. However, in addition, you need to find a compatible donor for bone marrow transplant, which is not always possible. This is why genetic therapy is very important. Without this or in the transplant, the health of children deteriorate quickly with poor quality of life in what we call the triple: frequent infections, bleeding and eczema, “explains Sanamaria.
According to the TELETHON Foundation, children who are born with Wikkot Aldric syndrome are one of 250,000 to 1,000,000 newborn children. The search for major geographical differences has not been revealed in its occurrence all over the world, although these results may be affected by the scarcity and variation of current studies and the lack of means in some regions of the world to diagnose this type of disorder.
This low decline and the large number of rare prescribed diseases – there are more than 7000, according to the World Health Organization (WHO) – a major challenge when it comes to choosing the location of investment of research resources and how to make treatments commercially. We have gorgeous advantages on pharmaceutical companies. We are a non -profit organization, so we do not have to pay our investors. We do not have to recover the investment that has been made in research, which is very high but we are funded thanks to donors, who are citizens and companies. Our researchers also receive funding from national and European plans. “
Despite these initial advantages, the founder’s research and development head indicates that these treatments are still very expensive: “The development of the Lentiviral transmission, for example, is very expensive. Then you need to extract, adjust the patients of the patient. Another. Its EMA and FDA.
Farmaindostia does not see the Industry Association steps such as those TELETHON Foundation has taken as bad, provided that “the treatments that have been developed in the academic field [or by non-profit entities] Follow the same evaluation and approval circle such as industrial. “According to the sector, this is the way to ensure that” treatments will fulfill the same quality, effectiveness and safety standards. “
The heart world, Solidad Kabizon, president of the AAJM and a former member of the European Socialist Party (PSOE), is on the contrary, commercial or profitable attention to treatments developed by public hospitals and non -profit entities “with the aim of” can be extended and shared with Other national or European entities. “
Jesús Lunar recalls the first months of his son’s life as “very difficult”. “After a shock to receive the news, the window of hope opened for us with genetic therapy. But those were very complex times. We were in the midst of a pandemic and Milan was one of its compounds. We spent seven months there, and with all cases of uncertainty, it was difficult to deal with.”
However, there was a moment when everything began to change. “When they pump him with treatment, you remain in a kind of forgetfulness. You can’t do anything, just wait. You are trying not to think about it a lot, but this is impossible. Then, suddenly, doctors tell you that the corrected gene has started to work. It has been normal. The blood sheets for the child, all the symptoms have decreased … they only need to go to the examination every six months.
Subscribe to Our weekly newsletter For more news coverage in English from El País USA Edition