Then he was offered an experimental gene therapy—a personalized “base editing” treatment designed to correct the specific genetic “misspellings” responsible for his disease. It seems to have worked! Three doses later, KJ is doing well. He took his first steps in December, shortly before spending his first Christmas at home.
KJ’s story is hugely encouraging. The team behind his treatment is planning a clinical trial for infants with similar disorders caused by different genetic mutations. The team members hope to win regulatory approval on the back of a small trial—a move that could make the expensive treatment (KJ’s cost around $1 million) more accessible, potentially within a few years.
Others are getting in on the action, too. Fyodor Urnov, a gene-editing scientist at the University of California, Berkeley, assisted the team that developed KJ’s treatment. He recently cofounded Aurora Therapeutics, a startup that hopes to develop gene-editing drugs for another disorder called phenylketonuria (PKU). The goal is to obtain regulatory approval for a single drug that can then be adjusted or personalized for individuals without having to go through more clinical trials.
US regulators seem to be amenable to the idea and have described a potential approval pathway for such “bespoke, personalized therapies.” Watch this space.
Gene resurrection
It was a big year for Colossal Biosciences, the biotech company hoping to “de-extinct” animals like the woolly mammoth and the dodo. In March, the company created what it called “woolly mice”—rodents with furry coats and curly whiskers akin to those of woolly mammoths.