Gene therapy for congenital metabolic diseases with neurological involvement: cerebrotendinous xanthomatosis

Project information

Genetic diseases caused by mutations in liver metabolism genes often have repercussions at the systemic level, including the central and peripheral nervous system. The overall objective of the project is to determine whether Adeno-associated virus (AAV)-derived vector-mediated gene therapy is able to restore liver function and prevent neurological manifestations. In this project, Cerebrotendinous Xanthomatosis (CXT) has been used as a disease model. XCT is caused by defects in the CYP27A1 gene, which encodes an enzyme essential for the synthesis of bile acids in the liver.

• Reference: Xantogen
• Start date: January 1, 2018
• End date: December 31, 2018
• Funder: Gobierno de Navarra
• Nature of project: National