LAMB3 gene therapy successfully treats epidermolysis bullosa

In a paper published in Nature, researchers from Ruhr University Bochum and colleagues described the successful regeneration and engraftment of almost the entire epidermis of a patient with junctional epidermolysis bullosa (JEB) using laminin beta 3 (LAMB3) gene replacement in epidermal progenitor cells called holoclones.

JEB is caused by mutations in genes encoding the basement membrane component laminin-332, and the 7-year-old patient had a mutation in LAMB3, one of three genes needed to produce functional laminin-332 protein. Using a 4 cm^2 skin biopsy from an unaffected area of the patient, researchers created LAMB3 transgenic cultures of primary clonogenic cells and keratinocytes by retroviral transduction of full-length LAMB3 cDNA. Epidermal grafts totalling about 0.85 m^2 were cultured and successfully grafted onto the patient, restoring the lost 80% of the patient's total body surface area. Since receiving the engraftment in 2015, the patient is stable, does not blister, itch or require ointment or medications...