The trial, sponsored by Généthon, will include 17 patients in four centres in Europe, and will assess safety and therapeutic efficacy of the gene therapy product developed by Généthon.
Crigler-Najjar Syndrome is a rare genetic liver disease (incidence around 1/1 000 000 births) associated with the abnormal accumulation of bilirubin — a yellow pigment produced by the liver — in all the body's tissues, particularly the brain tissues. When this enzyme does not work, bilirubin levels build up, leading to severe chronic icterus (jaundice) and becoming toxic to the brain. If it is not treated quickly, hyperbilirubinaemia can cause significant neurological damage and be deadly.
At present, to maintain bilirubin levels below the toxicity threshold, patients are subjected to 10 to 12 hours of phototherapy every day. The alternative is a liver transplant, a complicated and highly invasive procedure.
“In 1990, we created Généthon to better understand the genetic diseases that kill our children, and to find innovative treatments to cure them. For many years, our laboratory has been one of the global leaders in the gene therapy field. As a firm that has met many therapeutic challenges, it is now beginning the first human trial for this rare liver disease. At this very moment, my thoughts go out to the families, who for months have been looking forward eagerly to us getting the go-ahead from the official agencies to begin the trial, in which I realise they place so much hope”, says Laurence Tiennot-Herment, President of AFM-Téléthon.