“The most unfortunate family in the world.” This American, mother of three boys, two girls and a boy, carried, with her husband, a rare change in DNA.
As the country reports, if this mutation is brought by both parents, it can cause a potentially deadly genetic disease for children: the type 1 leukocyte adhesion deficit (LAD-1). And above all it is extremely rare, since it only affects one person in a million in the world. This disease, including Ava, 9, Olivia, 7, and Landon, 5, has taken her immune defenses. The three brothers and sisters have chained, for years, infection infection.
But, thanks to a therapy developed in Madrid, the Little Langenhop, as well as six other children who suffered the same disease, could find a normal life, as revealed by the New England Journal of Medicine, which summarizes the results in a publication dating back to April 30.
70% of patients die before 3 years
As our colleagues report, this therapy was designed in a Madrid laboratory. About fifteen years ago, a team of researchers decided to work in this genetic disease. “The seventy percent of patients with Lad-lad-Yo die before reaching three years,” said Juan Antonio Bueren, one of the team’s leaders, with Elena Almarza.
Symptoms are extremely painful: children suffer from bacterial infections, which significantly cause skin ulcers, mouth and respiratory tract.
“We felt that we had to climb a mountain every day. Every fever, every eruption was terrifying. We always think of the worst,” said Alicia Langenhop in a statement.
LAD-1 blocks a protein used to transport white blood cells to infected tissues. The scientists achieved, in 2016, cure the disease into mice by introducing a genetically modified virus to incorporate the correct version of the gene into the cells.
A modified gene reintroduced in the body
The study transmitted in the New England Journal of Medicine is two years and nine children, including Ava, Olivia and Landon, three other attention in Los Angeles in London and one in Spain. They were taken from stem cells in their bone marrow, which were corrected in the laboratory with the modified gene, before being reintroduced in their body.
“It was heartbreaking to see them crossing all this. It was painful with chemotherapy and all that. It was very difficult to see them cross this test,” recalls Alicia Langenhop to CBS News. “One of us spent all his time in the hospital with a child, while the other returned to the apartment with the other two children. We feel that we have no choice. We told ourselves: ‘This is what we have to do. We are going to get out of that.'”
“There is no reason to think that the graft will be lost”
“The nine children behaved very well, but ours, in particular, behaved very well; he had no complications. It is fine. With this clinical trial, we have shown that the treatment is curative,” said Dr. Julián Sevilla, head of the girl treated in Spain.
If caregivers still do not want to say that children are cured, they are very optimistic.
“The cells have been corrected and there is no reason to think that the graft will be lost at some point, because they have been there for more than two years and operate perfectly,” said Julián Sevilla.
“When they had their first knee scratch or their first cold after the transplant and that they were not extremely ill, seeing it with our own eyes made us understand that it worked and worth it,” added the mother of the three miracles.
Source: BFM TV
