New Genetic Modification Treatment Saves Child’s Life With Full-Body Skin Transplant

11.09.17 1 week ago

Left to right: Tobias Rothoeft, Tobias Hirsch, and Norbert Teig at Ruhr-University Bochum

A seven-year-old boy in Germany is back from the brink of death thanks to a new stem cell treatment. The boy lost 80% of his skin and was battling multiple infections due to junctional epidermolysis bullosa (JEB), a rare genetic disorder which causes the epidermis of the skin to disconnect from the dermis, leading to severe wounds, infections (frequently fatal), and (oftentimes) cancer. Half of all patients with JEB die before reaching adulthood. The skin cells of a patient with JEB can’t produce laminin-332, so a team of researchers (pictured above) at Ruhr-University Bochum — with guidance from Michele De Luca of the Centre for Regenerative Medicine in Italy — attempted a new technique: the largest transplant of genetically-modified skin ever undertaken.

After an attempted skin transplant from the boy’s father had failed, the family was faced with the prospect of having to give the child end-of-life care. The researchers believed there was still a chance: genetically modifying his own skin cells to produce laminin-332 and re-transplanting them. Since the cells are his own, the transplants shouldn’t be rejected by his body, and there was a chance they would regenerate on their own.

The genetically-modified stem cells were applied to the lost patches of skin on the child’s full body, replacing 80% of the skin in total over the course of three surgeries. It’s now the two-year anniversary of the procedure, and the boy is out of the hospital, off all pain medications, and regenerating healthy skin cells on his own. “His epidermis is stable, robust, and doesn’t blister at all, and his functionality is quite good,” De Luca told aXios.

The research could be applied to other JEB patients and other skin conditions, although the transplants may be more fraught with difficulty in adult patients, since their skin won’t replenish itself monthly as easily as a child’s will. There is now one clinical trial in progress in the United States to test this transplant method on other patients with JEB.

The team published a paper on their research in Nature on Wednesday.

(Via Ruhr-University Bochum, Nature, aXios, Discover, and Quartz)

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