In the United States of America (USA), a baby suffering from a rare metabolic disease has become the first patient in the world to receive personalized gene therapy using molecular scissors (Crispr-Cas9). This is a new technology that was awarded the Nobel Prize in Chemistry in 2020. This is reported by UNN with reference to the publication CRISPR Medicine News and Children's Hospital of Philadelphia.
Details
It is noted that without this technology, the child would have to undergo a liver transplant.
According to the publication, Kay Jay Muldoon, who is now nine months old, was diagnosed after birth with a severe metabolic disorder - carbamoyl phosphate synthetase 1 (CPS1) deficiency. This genetic disease is caused by mutations in the gene that encodes a key enzyme for liver function. The disease prevents the body from removing toxic metabolic waste.
If you Google what CPS1 is, you will see: either death or a liver transplant
Doctors offered the family experimental therapy using Crispr-Cas9 technology.
Our son was seriously ill. We had a choice: either a liver transplant or a treatment that had never been done before... It was an extremely difficult decision
Despite the fear, the couple agreed. In February, the child was given the first infusion, and later two more.
This treatment is created exclusively for Kay Jay, adapted to his unique genetic variants. It is a truly personalized medicine
After the drug is injected, the molecular scissors enter the nucleus of liver cells and try to change the defective gene. According to doctors, the results of the therapy are promising.
Now Kay Jay can consume more protein and needs significantly less medication. However, as the doctor emphasizes, long-term monitoring is necessary to fully assess the safety and effectiveness of the treatment.
Doctors hope that this breakthrough will allow the child to live "with minimal or no medication at all" and will become the basis for therapies adapted to the needs of other patients.
"We hope he will be the first in a long line of patients to receive treatment created specifically for them," said Arens-Niklas.
Let us remind you
British doctors successfully performed gene therapy on four children with congenital Leber's amaurosis. After a 60-minute operation, the children were able to see objects, recognize their parents' faces, and even read.