In the US, a baby was treated with molecular scissors for the first time in the world
In the US, an infant with a rare metabolic disorder became the first patient in the world to undergo individual gene therapy using molecular scissors (Crispr-Cas9), an innovative technology that won the 2020 Nobel Prize in Chemistry. About this informs CRISPR Medicine News.
KJ Muldoon, now nine months old, has a severe genetic disorder called carbamoyl phosphate synthetase 1 (CPS1) deficiency. This enzyme is vital for the functioning of the liver, and the disease prevents the body from excreting toxins. Without this treatment, the child would have had to undergo a liver transplant.
“If you google CPS1, you’ll see either death or a liver transplant.” said the boy’s mother, Nicole Muldoon.
The families were offered experimental treatment based on the use of Crispr-Cas9 technology.
“Our son was seriously ill. We had a choice: either a liver transplant or a treatment that had never been done to anyone before… It was an extremely difficult decision.”,” recalls father Kyle Muldoon.
The couple agreed, despite all the risks. In February, the child was given the first infusion of the drug, followed by two more.
“This treatment was created exclusively for KJ, tailored to his unique genetic variants. It is truly personalized medicine.” – explained doctor Rebecca Arens-Niklas, geneticist of children’s medicine.
After the drug is administered, the molecular scissors enter the nucleus of the liver cells and try to correct the genetic defect. According to doctors, the first results are encouraging. KJ is now able to consume more protein and requires less medication. At the same time, as the doctor emphasizes, long-term medical monitoring is necessary to assess the complete safety and long-term effectiveness of the therapy.
Doctors hope that this breakthrough will allow the child to live “with minimal or no medication” and will serve as an example for creating similar therapies for other patients.
“We hope that he will be the first in a long line of patients to receive a treatment designed just for them.”, — concluded Arens-Niklas.
