An experimental gene therapy restored liver function in patients with a rare disease that can lead to irreversible brain damage, findings from an early-stage study show.
(Bloomberg) — An experimental gene therapy restored liver function in patients with a rare disease that can lead to irreversible brain damage, findings from an early-stage study show.
The inherited disorder, called Crigler-Najjar syndrome, is potentially lethal, and the only effective longterm treatment is a liver transplant. The gene therapy, made by nonprofit French biotech Genethon, is among just a few to show success in treating liver disease, a group of European researchers said Wednesday in the New England Journal of Medicine.
Bilirubin is a toxic chemical made when red blood cells break down; normally cleared by the liver, it’s known for giving a yellow tint to the skin of people with jaundice. While many babies are born with mild jaundice that quickly resolves, Crigler-Najjar syndrome is the result of a gene mutation prevents newborns from making an enzyme that clears bilirubin. If a transplant isn’t available, people with the syndrome generally depend on daily, prolonged exposure to fluorescent light to get rid of the chemical.
Five women from the ages of 21 to 30 with Crigler-Najjar syndrome were enrolled in the trial, which began in December 2018. They were treated with a single intravenous infusion containing a working copy of the gene that’s turned off in the disorder. A similar mechanism has been effective in treating patients with certain forms of hemophilia, a genetic bleeding disorder.
Two of the patients received a lower-dose version of the gene therapy, which didn’t work. The other three were given a higher dose that reduced bilirubin by as much as 30% — enough to discontinue light treatments. Those improvements were still apparent 18 months later, even without restarting other treatments, the study said. No serious adverse events were reported. Due to the small size of the study, researchers said it needs to be replicated in larger, well-characterized patient groups.
Genethon, headquartered near Paris, has been developing gene therapies since 1997. It has an ongoing collaboration and licensing agreement with Sarepta Therapeutics Inc. for a gene therapy to treat Duchenne muscular dystrophy. The company also contributed to the early clinical development of a genetic eye disease treatment that GenSight Biologic SA is seeking marketing authorization for in Europe.
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