For the first time, a personalized gene editing therapy has benefited a child. Clinical trials with other children will follow.
Late last year, an international team of scientists and clinicians joined forces in an unprecedented race to save the baby’s life.
The baby was born with a rare genetic disease that prevents the liver from eliminating ammonia from the body.
In just six months (a record) researchers designed and applied a genetic editing created just for youspecifically for him.
Now, the same doctors are preparing to repeat the success in at least five more childrenpotentially opening the doors to a new era of personalized medicine.
The used an advanced form of the CRISPR–Cas9 technique, known as base editing, which allows the correction of genetic mutations in a single “letter” of DNA without cutting the double helix.
KJ’s doctors are now launching a clinical trial which will apply the same method to other children with similar metabolic diseases.
KJ was born with a disability CPS1, a condition so rare that it affects around one in every million newborns. Because he was unable to produce an essential liver enzyme, his body accumulated toxic ammonia, which put his brain and survival at risk. Traditional therapies offered little hope except liver transplantation.
As an alternative, doctors created a gene editing therapy aimed at correcting the faulty gene, replacing a single wrong letter in DNA with the correct one.
Weeks after receiving treatment in February, KJ’s ammonia levels dropped dramatically and his condition stabilized.
Today, the baby is fine, progress: He learned to stand up, eat solid food and is now taking his first steps. “We celebrate every achievement,” says mom, Nicole Aaron. “He has a light that illuminates everywhere he goes.”
Motivated by these results, experts are developing therapies for children with mutations in seven genes related to ammonia metabolism disorders.
The new treatment will reuse almost all of the components used in KJ’s, altering only the guide RNA, the molecule that guides the gene editor to the specific mutation.
Regulators agreed to use some of the safety data obtained in KJ’s case, a decision that could reduce development time from six months to just three or four.
The team also intends to publish data to help other researchers deal with the regulatory process.
There are still obstacles ahead. But there is optimism: “Personalized treatments are the future,” says Ryan Maple, of the Global Foundation for Peroxisomal Disorders.
“What began as therapy for a single child could soon transform the lives of thousands”Ryan concludes, quotes .
