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.
