Baby KJ after a gene editing infusion with researchers Rebecca Ahrens-Nicklas and Kiran Musunuru
Philadelphia children’s hospital
A little boy with a potentially fatal genetic condition has become the first person to receive a tailor -made CRISPR gene treatment, giving an overview of what the future of medicine might look like.
This is the first time that anyone has received a genetic editing treatment designed to correct a pathogenic mutation in the disease that we only find in this person, Rebecca Ahrens-Nicklas at the children’s hospital in Philadelphia, Pennsylvania, said a press briefing. “He shows some early signs of profits,” she says, but it is too early to say how the treatment worked.
The researchers have published the details as soon as possible in the hope that he will inspire others, explains Kiran Musunuru, member of the team at the University of Pennsylvania. “We hope very much that showing that it is possible to make personalized gene publishing therapy for a single patient in several months will inspire others to do the same,” he said.
“I don’t think I exaggerate when I say that it is the future of medicine,” he says. “This is the first step towards the use of genetic editing therapies to treat a wide variety of rare genetic disorders for which there are in fact very few treatments currently in development.”
The boy, KJ, inherited mutations in each of his two copies of a gene for a liver enzyme called CPS1. Without this enzyme, ammonia accumulates in the blood when proteins, including those we eat, are decomposed, damaging the brain. More than half of the children born with a CPS1 impairment, explains Ahrens-Nicklas.
She and Musunuru have developed treatments for this type of condition that targets the liver, which allows them to quickly create basic therapy – a form of CRISPR – which corrects one of the two copies of KJ of the CPS1 embarrassed.
The team contacted American regulators very early. “They admitted that it was an unusual circumstance,” explains Musunuru. “KJ was very, very sick, and there was no time for business as usual. When we officially submitted our request to the FDA [Food and Drug Administration] When KJ was 6 months old, the FDA approved it in just one week. »»
KJ received a low dose of treatment in February 2025 at the age of 6 months, followed by larger doses in March and April. He is now able to eat more protein than before, despite a lower amount of other drugs to manage his condition.
Ideally, children would be treated even earlier to prevent long -term damage conditions such as CPS1 deficiency can cause. As New scientist Reported last year, Musunuru aims to one day edit human genes before birth.
Other genetic editing therapies are designed to operate for many people, regardless of the specific mutation, causing their condition. For example, the first processing of approved genes, for sickle cell anemia, works by activating the production of fetal hemoglobin, rather than correcting the mutations of adult hemoglobin that cause the condition. Although it is a “one size” treatment, it always costs it £ 1,651,000 per treatment course in England.
KJ with his family after treatment
Philadelphia children’s hospital
Personalized treatments are probably even more expensive. Musunuru says that he cannot put a number on the treatment of KJ, because the companies involved have done much of the work for free. But the price will drop, he thinks. “As we improve, the economies of scale will be hampered and you can expect the cost to lower orders of size,” he said.
One of the reasons why personalized genetic editing treatments have not been developed before is that regulators considered the therapies targeting different mutations in the same gene as separate, which means that companies should have restarted the approval process from zero for each different mutation. But there is now a movement towards what is called a platform approach, where regulators will give wide approval to therapy for a condition, whatever the targeted mutation.
“Approaches based on the platform, such as the edition of the genome with CRISPR – as we see with the treatment of KJ – offer an evolutionary means of treating even the rarest diseases,” said Nick Meade to the Genetic Alliance UK, a charity that helps people with rare diseases. “Finally, the treatment is a realistic perspective for thousands of families.”
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