A baby born with a rare metabolic disease has been the first to receive an experimental and personalized therapy based on CRISPR genetic editionto which he has responded positively, although more prolonged monitoring is needed to fully evaluate the benefits.
Great carbamoil deficiency Syntheta 1 (CPS1) is the name of incurable genetic disease with which the child was born, identified as KJ in a study published The New England Journal of Medicine.
The baby, who received the first dose last February, when he had between six and seven months, has been treated “successfully” at the children’s hospital in Philadelphiasigned by the study with the University of Pennsylvaniaand now “it is growing well and improving,” said the medical center.
“Although KJ will need careful monitoring for the rest of his life, our initial results are quite promising,” said Rebecca Ahrens-Nicklas, from the Pennsylvania hospital and one of the signatories of the article.
CPS1 deficiency patients are usually treated with a liver transplantfor which they must be medically stable and be old enough to deal with the intervention, but at that time there is a risk of rapid organ failure.
The team began to collaborate to study the viability of creating custom genetic edition therapies for individual patients in 2023, based on years of research on rare metabolic disorders.
Finally they focused on the CPS1 variant, a rare disorder of the metabolism of the urea cycle due to the lack of an enzyme in the liver and that begins shortly after birth.
Can cause damage to the brain and liver
During the normal decomposition of proteins, ammonia occurs and the body makes it urea, which is excreted by urine, but with that disease it accumulates until it reaches a toxic level that can cause damage, especially in the brain and liver.
KJ spent the first six months of his life at the hospital subject to a very restrictive dietthat was the time the team took to design a therapy administered by lipid nanoparticles in the liver to correct the defective enzyme.
After the initial dose, he received another two in March and April without serious side effects and, in the short time, he has tolerated an increase in food proteins and has needed less medication, the hospital said in a statement.
In addition, he has been able to recover from some typical childhood diseases, such as rinovirus, without accumulating ammonia in his body.
For now there is a lot of work to be done, but “researchers are cautiously optimistic about the evolution of the child, according to the National Health Institutes (NIH) of the United States, which was one of the studies of the study.
CRISPR is an advanced gene editing technology that allows precise changes in the DNA Within living cells and this is the first known case of a personalized medication based on this techniquewhich was designed to go to non -reproductive cells, so that the changes would only affect the child.
The team expects this child to “be the first of many who benefit from a methodology that can adapt to the needs” of each one, said Ahrens-Nicklas, in the statement.
The also signer of the Kiran Musunuru study wished other researchers reproduce this method “for many rare diseases and give many patients a fair opportunity to lead a healthy life.”
Commenting on the article in which he did not participate, The researcher at the National Biotechnology Center (CNB-CSIC) Lluíbut “hardly scalable or universalizable, since each patient will be a carrier of different mutations.”
Montoliu indicated to Science Media Center, a platform of scientific resources for journalists, that the “important issue” that the article is not addressed is the accessibility and affordability of these treatments for children who have these diseases.