nucleic acid construct and its use, vector, host cell, viral particle, pharmaceutical composition, kit, disease treatment method, viral particle production process

摘要

The invention relates to nucleic acid constructs and gene therapy vectors comprising an atp7b variant for use in the treatment of conditions associated with a copper carrying atpase 2 deficiency or dysfunction, and particularly, wilson's disease. an aav vector developed according to the invention significantly reduced urinary cu excretion and liver cu content in vector treated mice with wilson's disease, while ceruloplasmin activity was significantly restored. On the other hand, administration of the vector resulted in normalization of serum transaminase levels and liver histology, coupled with a marked reduction in inflammatory infiltrate.