A group of researchers from the Biomedical Research Center in Red de Enfermedades Raras is developing a new therapy against dystrophic epidermolysis bullosa. Their latest study demonstrates the effectiveness of genetic editing, opening the door to future clinical trials.
The researchers tested the treatment only on clinical models, for the time being. However, the first results are encouraging: editing has corrected more than 80% of the patients' cells. Consequently, it can be stated with sufficient confidence that it is safe and efficient. Two fundamental characteristics to test a new therapy on humans.
Dystrophic epidermolysis bullosa is an aggressive form of epidermolysis bullosa. The disease is rare and makes the skin fragile, always full of blisters and wounds. This exposes the patient to complications, including the formation of fibrosis. For this reason, the disease significantly reduces the quality of life of patients and their families. The study authors used CRISPR / Cas9 to correct patients' skin stem cells.
The correct stem cells produced healthy cells, free of the mutation that caused the disease. By transplanting the skin thus produced onto a patient, the entire tissue could gradually be regenerated. Or at least, this is what the preclinical models of the disease imply. The biggest problem with genetic editing with CRISPR / Cas9 was the lack of efficiency. This made it impossible to apply it in clinical therapies, for treatment on patients. Instead, the authors of the study showed a new approach, which could be more effective than editing with viral vectors. Now only the first patient trials are missing.