The group used the technique CRISPR-Cas9 to correct mutations in the CAPN3 gene in cells derived from LGMD2A patient samples called induced pluripotent stem cells (iPSCs). After gene correction, the cells showed expression of the Calpain 3 protein at levels similar to non-LGMD2A cells. Gene corrected cells were then transplanted into the tibialis anterior muscle of a mouse model of LGMD2A.

Although stem cell-based therapies are still in very early stages of development for muscular dystrophies, the results in this paper suggest that this strategy may have potential as a therapy for LGMD2A.

This work was funded in part by C3, with the support of a generous grant from Beyond Labels and Limitations.