The real patient benefit of gene therapy highlighted by skin transplant

In 2015, a 7 year old patient was presented at a hospital in Germany with severe burns. The patient had suffered debilitating blisters due to junctional epidermolysis bullosa, since birth. A spice mutation in LAMB3 caused a defect in the production of Laminin 332, a component of the skin membrane. Scientists took a biopsy of the patients skin for ex vivo gene therapy. The keratinocytes were infected with a MLV retrovirus carrying the correct copy of LAMB3 and grown into sheets before autologous transplantation. 5 years on, the patient has presented with fewer blisters and vastly improved quality of life.


The real world benefit of gene therapy is stark and TestAVec aims to de risk vectors to provide confidence in safe and effective gene therapy tools.


Transgenic Epidermal Cultures for Junctional Epidermolysis Bullosa — 5-Year Outcomes | NEJM