First Patient Treated in Genethon Gene Therapy Trial for Rare Liver Disease

December 12, 2018

Rare Daily Staff

Genethon and the AFM-Telethon said investigators treated the first patient in a clinical trial of its experimental gene therapy UGT1A1 to treat Crigler-Najjar syndrome, a rare genetic liver disorder.

Crigler-Najjar syndrome is characterized by the abnormal accumulation of bilirubin, a yellow pigment produced by the liver, in all body tissues. This hyperbilirubinemia results from a deficiency of the enzyme (UGT1A1), which converts bilirubin into a substance that can be eliminated. When this enzyme does not work, bilirubin levels build up, leading to severe chronic icterus (jaundice) and becoming toxic to the brain. If it’s not treated quickly, hyperbilirubinaemia can cause significant neurological damage and be deadly.

To keep bilirubin levels below the toxicity threshold, patients currently undergo up to twelve hours of daily phototherapy. The only treatment is liver transplantation, a complex and highly invasive procedure.

Genethon was created by AFM-Telethon, an association of patients and relatives that supports clinical trials testing of treatments for genetic diseases. The AFM-Telethon laboratory, is sponsoring this multicenter international phase 1/2 trial, injecting intravenously an AAV vector that is able to transfer the UGT1A1 gene, which codes for the production of bilirubin GT, into liver cells. A total of 17 patients will be treated over the next few months.

The clinical trial will assess the product’s safety, determine the optimal dose and evaluate the drug candidate’s therapeutic efficacy. It is being conducted in four clinical centers in Europe.

“We have dedicated many years of research at Genethon to design a gene therapy for the treatment of Crigler–Najjar syndrome, and we’ve worked in close collaboration with leading European clinical centers and with patients’ associations to prepare the clinical trial,” said Frederic Revah, CEO of Genethon. “Treating the first patient is an important milestone for patients and their families, doctors and researchers but also for our laboratory, Genethon, whose quality of R&D is once again making it possible to propose innovative treatment for a rare disease.”


December 12, 2018
Photo: Frederic Revah, CEO of Genethon

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