A baby born with a Rare and dangerous genetic disease is growing and thriving after obtaining an experimental Gene editing treatment made only for him.
The researchers described the case in a new study, saying that he is one of the first to be successfully treated with a personalized therapy that seeks to correct a small but critical error in their genetic code that kills half of the affected babies. Although it can spend time before similar personalized treatments are available to others, doctors expect technology to help the millions of people who are left behind, even when genetic medicine has advanced because their conditions are very rare.
“This is the first step towards the use of gene editing therapies to treat a wide variety of rare genetic disorders for which there are currently no definitive medical treatments,” said Dr. Kiran Musunuru, an expert in gene edition of the University of Pennsylvania who is co -author of the study published Thursday at the New England Journal of Medicine.
The baby, KJ Muldoon from Clifton Heights, Pennsylvania, is one of the 350 million people around the world with rare diseases, most of whom are genetic. It was diagnosed shortly after birth with a severe CPS1 deficiency, estimated by some experts to affect around one in every million babies. These babies lack a necessary enzyme to help eliminate the ammonia of the body, so it can accumulate in their blood and become toxic. A liver transplant is an option for some.
Knowing the chances of KJ, the parents Kyle and Nicole Muldoon, both 34 years old, worried that they could lose it.
“We were, as, you know, weighing all the options, asking all the questions for the liver transplant, which is invasive, or something that had never been done before,” Nicole said.
“We pray, we talked to people, we gathered information and finally decided that this was the way we were going to go,” added her husband.
In six months, the Children’s team hospital in Philadelphia and Penn Medicine, along with their partners, created a therapy designed to correct KJ’s defective gene. They used CRISPR, the gene editing tool that The Nobel Prize won its inventors In 2020. Instead of cutting the DNA thread as the first CRISPR approaches, doctors used a technique that turns the “lyrics” of mutated DNA, also known as the base, to the right type. Known as “base edition”, it reduces the risk of unwanted genetic changes.
It is “very exciting” that the team has created therapy so fast, said gene therapy researcher FEHIL BHOOPALAN at the Children’s Research Hospital of St. Jude in Memphis, who was not involved in the study. “This really establishes the rhythm and reference point for such approaches.”
In February, KJ obtained its early IV infusion with gene editing therapy, administered through small drops of fats called lipid nanoparticles that hepatic cells absorb.
While the room was full of emotion that day, “the whole matter slept,” recalled study author Dr. Rebecca Ahrens-Nicklas, expert in gene therapy in Chop.
After the tracking doses in March and April, KJ has been able to eat more normally and has recovered well from diseases such as colds, which can force the body and exacerbate the symptoms of CPS1. The 9½ -month -old boy also takes fewer medications.
Taking into account his poor prognosis before, “every time we see even the smallest milestone found, like a small wave or circling, that is a great moment for us,” said his mother.
Even so, the researchers warn that only a few months have passed. They will have to see it for years.
“We are still in the early stages of understanding what this medicine may have done for KJ,” said Ahrens-Nicklas. “But every day, it shows us signs that it is growing and thriving.”
Researchers expect what they learn from KJ help other patients with rare diseases.
Genetic therapies, which can be extremely expensive to develop, are generally aimed at the most common disorders in part for simple financial reasons: more patients potentially mean more sales, which can help pay development costs and generate more profits. The first Crispr therapy Approved by the United States Drug and Food AdministrationFor example, it deals with falciform cell disease, a painful blood disorder that affects millions worldwide.
Musunuru said his team’s work – partially financed by the National Health Institutes – He showed that creating a personalized treatment does not have to be prohibitively expensive. The cost was “not far” from the more than $ 800,000 for an average liver transplant and related attention, he said.
“As we improve more and more to do these therapies and shorten the period of time even more, the economies of scale are activated and would expect the costs to fall,” Musunuru said.
Scientists will not have to rebuild all the initial work every time they believe a personalized therapy, said Bhoopalan, so this research “prepares the scenario” to treat other rare conditions.
Carlos Moraes, a professor of neurology at the University of Miami who was not involved with the study, said research like this opens the door to more advances.
“Once someone comes with an advance like this, he will not take time” for other teams to apply the lessons and advance, he said. “There are barriers, but I predict that they will be crossed in the next five to 10 years. Then the whole field will move like a block because we are quite ready.”
———-
The Department of Health and Sciences of Associated Press receives support from the Science and Educational Media Group of the Howard Hughes Medical Institute and the Robert Wood Johnson Foundation. The AP is solely responsible for all content.
