Clinical trial gives hope to Crigler-Najjar patients and their families
Elena Camillo (7 years) is a young girl born with the Crigler-Najjar syndrome, a rare inherited genetic disorder caused by the deficiency of a liver-specific enzyme. Untreated, Crigler-Najjar triggers irreversible neurological damage in the brain and, finally, leads to death. The only available treatment so far, except for a liver transplant, is phototherapy. Therefore, Elena has to spend all her nights under special blue light and her parents closely monitor her bilirubin levels and her skin for jaundice. Genethon, created by AFM-Téléthon in 1990 and coordinator of CureCN, leads a clinical trial which now gives hope to patients and their families. Elena herself cannot participate in the trial as children need to be at least 10 years old, and it will take years before the trial will show results. But the fact that research is progressing and that there might be a curative treatment in the future, gives hope to Crigler-Najjar patients and their families.
Elena Camillo is part of Téléthon’s campaign “Vaincre la maladie, c’est enfin possible” celebrating 60 years of research at Téléthon on December 7-8, 2018. An article about her and her family has appeared in French in Le Républicain Lorrain.