This technology is a gene therapy approach that restores expression of human emerin protein in cardiac and skeletal muscles.
Emery-Dreifuss muscular dystrophy (EDMD) is a rare muscular disorder causing joint degradation, muscle wasting, and life-threatening heart disease. One subtype of EDMD is driven by mutations in the X-linked EMD gene, leading to loss of the protein emerin. Current treatment options are limited to supportive and symptomatic care, with no disease-modifying therapies available.
This technology uses adeno-associated virus (AAV) to selectively deliver functional human emerin protein to striated muscles. By utilizing a promoter that drives expression specifically in muscle, this approach restores strong expression of emerin in heart and skeletal muscles without inducing significant toxicity to the liver or kidney.
This technology has been validated with mice lacking a functional copy of the Emd gene and a human iPSC-derived cardiomyocyte model of X-linked EDMD.
Gene therapy for X-linked EDMD and related disorders caused by emerin deficiency
Treatment of emerin-related cardiomyopathy
Research tool for studying X-linked EDMD
Platform for developing gene therapies for other striated muscle diseases
Platform for developing non-AAV delivery platforms
Disease-modifying approach
Restores robust and specific emerin expression
Restores proper localization of emerin protein
Minimizes off-target and systemic toxicities
Support long-term therapeutic efficacy and safety
IR CU26383, CU26392
Licensing Contact: Jerry Kokoshka
