The relevance of genome editing coupled with cell therapy in the treatment of calpainopathies

German researchers have developed a cell therapy coupled with a CRISP-Cas9-based genome editing technique in a transgenic mouse with the c.550delA founder mutation in the homozygous state in the CAPN3 gene encoding calpain-3 (calpain-related LGMD-R1):

  • the edited cells were able to re-express the calpain-3 protein transcripts in the normal state, demonstrating that genome editing was possible at the single nucleotide base level;
  • safety checks did not reveal any off-target phenomena in the modified cells.

However, many unknowns remain concerning the possible transfer to humans, as cell transplants into muscle have often failed in the past.


Cas9-induced single cut enables highly efficient and template-free repair of a muscular dystrophy causing founder mutation. Müthel S, Marg A, Ignak B et al. Mol Ther Nucleic Acids. 2023 Feb 5;31:494-511.