New Research Project CureCN Aims to Cure the Ultra-Rare Crigler-Najjar Syndrome

The new European research project CureCN coordinated by Federico Mingozzi and Généthon (partner in MYOCURE) focuses on developing a curative gene therapy for the ultra-rare liver disease Crigler-Najjar syndrome (CN).

Crigler-Najjar is an extremely rare, life-threatening liver disease that affects about one in a million individuals at birth and is caused by the deficiency of a liver-specific enzyme (uridine diphosphate Glucuronosyltransferase 1A1). If untreated, CN results in accumulation of toxic unconjugated bilirubin in serum and body tissue, leading to irreversible neurological damage in the brain and ultimately to death. Currently, there is no curing treatment available apart from liver transplantation. Treatment with phototherapy reduces the symptoms, but is very debilitating and loses its efficacy over time.

The main objective of CureCN is thus the development of an innovative gene therapy based on liver gene transfer with an adeno-associated virus (AAV). AAV vector-mediated gene therapy has already shown promising results in preclinical trials. First market approvals for other gene therapies have already been obtained and are also envisaged for the treatment examined in CureCN. AAV vectors are also used in MYOCURE for the development of new therapeutic products for patients suffering from myotubular myopathy (MTM) and glycogen storage disorder (GSD) type II.

In addition to implementing the clinical trial, CureCN aims to establish the first global CN patient registry compiling data about the natural course of the disease and allowing a comparison of current treatments. As a patient-driven initiative, CureCN is supported by all active European patient associations, located in France, Italy and the Netherlands.

For further information, please visit the CureCN website.