The orensana Paula Seoane, 40, remembers the night in which a team of scientists crossed Madrid to the race with her son's cells in her hand. It was March 16, 2017. His son Xabi was admitted to the Hospital del Niño Jesús, after being diagnosed with a rare genetic disease that explained the malformations of the heart, ear, esophagus and duodenum with which he was born and his platelet fall and Red blood cells. Xabi needed more blood cells. And the scientists who entered through the hospital door at two o'clock that night arrived with bags loaded with cutting-edge science.
Xabi's disorder, called Fanconi anemia, is caused by mutations in the gene FANCA, one of the 25,000 that all people own in each of their cells. Under normal conditions, that gene instructs to fix detected DNA damage, but this repair mechanism is affected in people with Fanconi anemia. The usual consequences are congenital malformations, solid tumors and bone marrow failure. There are about 150 cases in Spain. "When you hear the diagnosis is devastating," explains Seoane. Xabi turned 8 last Friday.
The child is one of the first four patients of an experimental therapy against Fanconi anemia. The strategy is very sophisticated. The fatty tissue found inside the bones, the bone marrow, contains stem cells precursor to blood cells, such as red blood cells and platelets. The scientists mobilized these immature cells to Xabi's blood and were specifically extracted in the Infant Jesus. There began the race against the clock.
Xabi cells traveled from the hospital to the Center for Energy, Environmental and Technological Research (Ciemat), northwest of Madrid. There, in a sterile laboratory, the researchers Paula Rio and Susana Navarro They corrected the genetic defect of Xabi stem cells by introducing a correct version of the gene through a virus. At the end, in less than 24 hours, they ran back to the hospital to return their corrected cells to the child.
The results in the four patients, published this Monday in the magazine Nature MedicineThey are hopeful. The modified cells have nested in the bone marrow and have expanded replacing those affected by the mutations. “In one of the children, healthy cells represent 70% of the total three years after the infusion,” he explains. Juan Bueren, Program coordinator. His team has spent 20 years dedicated to developing this gene therapy.
Hematologist Julian Seville, principal investigator of the clinical trial at the Foundation of the Hospital del Niño Jesús, has his feet on the ground. By his consultation they happen around the fifth part of the people with anemia of Fanconi of Spain. "In some cases, we are too late to reverse the situation," he acknowledges. The trial is expanding and it is becoming clear that experimental therapy is only successful when the child's bone marrow still has a sufficient amount of stem cells. If not, it does not work. “Removing stem cells from a diseased bone marrow is very difficult,” laments Sevilla.
The doctor qualifies success. Even at best, with 70% corrected stem cells, an increase in platelets and red blood cells is not yet observed. “What we can say is that, clinically, we have slowed the deterioration. Children can go to school and lead a normal life, ”he says.
For Xabi's mother, it's already a lot. "We have hope and we know that we are privileged, because before there were many families who faced the diagnosis without any option," he celebrates.
Thanks to science, the diagnosis has ceased to be lived as a death sentence, as happened a couple of decades ago. The therapy of choice is a blood stem cell transplant from a healthy donor, usually a sibling. If this compatible family member does not exist, many parents choose to have another baby by selecting embryos in the laboratory. In the case of Xabi, his mother, Paula, and his father, Javier Baltar, were not lucky enough to find a suitable donor. The new experimental treatment was his opportunity. “We have opened one more door for families,” summarizes Sevilla.
Today, Xabi is "an earthquake," says his mother. Surgical operations to fix their congenital malformations went well, without major complications. And the new therapy seems to be working. “Here is this very intense child, who does not let us rest, but we are happy to see him with vitality. And last us! ”, He recounted this morning.
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