263 First in human use of a novel in vivo gene therapy for the treatment of autosomal recessive congenital ichthyosis: Results of a phase I/II placebo controlled trial

Abstract

Autosomal recessive congenital ichthyosis (ARCI) is a rare, monogenic cornification disorder with erythema, epidermal scaling, ectropion, and impaired skin barrier function. Mutations in TGM1 encoding transglutaminase 1 are the predominant cause of ARCI, affecting >55% of US ARCI patients. Current therapeutic options for treating ARCI provide only symptomatic relief, necessitating the development of targeted therapeutics. KB105 is a novel, convenient, first in class, off-the-shelf disease correcting topical gene therapy for the treatment of TGM1-deficient ARCI.