Shortly after birth, KJ was diagnosed with a very serious and very serious disease. His parents heard that he had carbamoil-phosphate synthetase (CPS1) deficiency, a problem that affects one in 1,300,000 people. The lack disrupts the urea cycle, a bodily process that eliminates the excess ammonia that occurs when we process proteins. Normally, our body converts ammonia into urea, which we expel when urinating, but KJ lacked an enzyme in the liver necessary for that conversion. When the ammonia accumulates, it can cause crisis with irreversible neurological damage and, in 50% of the little ones, death. In some cases, it is possible to treat the disease with a liver transplant, but many times babies are too small or have already suffered damage before surgery.
KJ had bad luck at birth, but then he had it good. After spending the first six months of his life in the hospital, subject to a restrictive diet to avoid poisoning by ammonia, in February of this year he received the first dose of a therapy that has changed his life. A Team of the Philadelphia Children’s Hospital created a customary customary therapy urgently, in just six months from diagnosis to regulatory approval for compassionate use and its application. Medicine precisely modified KJ’s DNA to correct the mutation that made him ill. A few months later, the baby is healthy and at home, and the results of this success have just been submitted in New Orleans (USA), at the annual meeting of the American and Cellular Therapy Society, and have been published today Thursday in the magazine The New England Journal of Medicine.
To repair the genes that did not work well, the researchers used the CRISPR technology, which allows you to cut and paste DNA precisely, and, specifically, a version that makes it possible to edit the chemical bases that make up the letters of the instruction book of life. With this editing system they could correct single letter errors (a base) without completely cutting the DNA, and could create a custom therapy for the baby. The treatment was administered directly in KJ’s body to act on liver cells, where he could arrive thanks to tiny fat capsules. These fat nanoparticles showed their effectiveness to introduce innovative medicines into the body with the Messenger RNA vaccines for COVID and have made possible treatments that previously failed due to lack of means of transport.
The baby received two infusions of the treatment, at 7 and 8 months of age, and the results, in the opinion of the doctors, are encouraging after seven weeks of follow -up, although they recognize that it is still a short time. Thanks to the therapy, KJ was able to increase the amount of protein that ate and reduce the medication he needed to eliminate nitrogen and keep the ammonia levels low.
The study shows that it is possible to quickly develop and apply this type of personalized genetic edition therapies to save life affected by these extremely rare diseases and with unique variants. The authors believe that this approach could serve to correct hundreds of innate genetic errors that affect the liver and cause metabolic problems, but for now only success has been achieved with a baby. In statements to SMC Spain, Marc Güell, coordinator of the Research Group in Translational Synthetic Biology and Professor at the Pompeu Fabra University (UPF), affirms that it is “a great demonstration”, but warns that “this correction has been made in the liver; other fabrics are much more difficult to edit Genically, for now”.
“Years and years of advances in the genetic and collaboration edition between researchers and doctors made this moment possible, and although KJ is only a patient, we hope it is the first of many to benefit from a methodology that can adapt to the individual needs of each patient,” said Rebecca Ahrens-Nicklas, director of the Frontier Program for gene therapy for inherited metabolic disorders (GTIMD) in the children’s hospital Philadelphia and co -responsible for treatment.
Until now, genetic editing tools such as CRISPR had been used to treat more common diseases that affect tens or hundreds of thousands of patients, such as the two diseases for which there are currently therapies approved by European and American regulators, the anemia of falciform cells and beta talaasemia. However, personalized genetic editing treatments benefit few of the patients suffering from rare ailments among the rare ones, although together they affect millions of people worldwide.
The results presented today, although they are only a first step and technical or cost problems must be faced, it offers hope for these people. A hope fulfilled for Kyle Muldoon, KJ’s father, who showed his joy in a hospital statement: “We have been completely immersed in this since the child was born, and our entire world has revolved around this little one and his stay in the hospital. We are very excited to power, finally, be together at home so that KJ can be with his brothers, and we can finally breathe calm.
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