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    EB’s great hope

    In November 2017, Nature published the case of a seven-year-old boy with junctional epidermolysis bullosa. He was near death and had lost about 80% of his epidermis because of a double bacterial infection.

    Two years after receiving an experimental regenerative treatment with autologous transgenic keratinocyte cultures to replace the damaged skin, the child was back at school playing soccer. His skin appeared normal.

    Dr. PriceThe study’s senior author Michele De Luca, M.D., a regenerative medicine specialist at the University of Modena and Reggio Emilia, Modena, Italy, had performed two proof-of-principle transgenic cell therapies on small skin patches for junctional epidermolysis bullosa patients before tackling this transgenic replacement on most of the boy’s body. The successful trial represents a milestone for patients with the severe and often lethal genetic disease.

    “This is the best news we’ve had for the epidermolysis bullosa community in a long, long time,” says Harper Price, M.D., a pediatric dermatologist at Phoenix Children’s Hospital, Phoenix, who treats children with epidermolysis bullosa.

    Dr. Pope

    “I compare this to the excitement that was generated when it was announced that children were undergoing stem cell transplants for epidermolysis bullosa. I would say this is much greater and exciting news in the fact that it’s genetic. It’s targeted therapy towards specific mutations in epidermolysis bullosa,” said Dr. Price who was not affiliated with the study.

    Elena Pope, M.D., professor of pediatrics at the University of Toronto and head of pediatric dermatology at The Hospital for Sick Children in Toronto, says the work is extremely important. It provides proof-of-concept that replacing the entire skin using epidermal stem cells is a feasible option for patients with severe types of epidermolysis bullosa, including the junctional type.

    How it happened

    German doctors contacted Dr. De Luca in 2015 about the young Syrian epidermolysis bullosa patient, who had become dangerously ill. His parents consented to the experimental procedure and authorities granted the request for treatment on compassionate grounds.

    Researchers biopsied an area of the boy’s still intact epidermis and extracted keratinocytes, expanding those in culture; then, transducing a “retroviral vector carrying the full-length, healthy version of the laminin b3 coding sequence,” according to an article in The Scientist.

    The cells grow as sheets, which when further expanded, could blanket the child’s body.

    Two operations, performed in October and November 2015, were needed to transplant the cells. A smaller third operation in January 2016 filled the gaps.

    In the post-operative weeks, the transplanted cells began closing the boy’s wounds. And months after surgery, biopsies showed normal, healthy skin.

    The treatment sounds relatively painless, but according to Dr. Price, even a small biopsy in an epidermolysis bullosa patient can be significantly painful and not heal for months. And to transfer the cell sheets to large body areas, doctors have to have the patient’s skin cleaned and debrided.

    “Working on epidermolysis bullosa skin is like butterfly wings. But compared to other treatments like a stem cell transplant, I think it’s much less of a risk because we’re not affecting their immune system,” she said.

     

    Lisette Hilton
    Lisette Hilton, president of Words Come Alive, has written about health care, the science and business of medicine, fitness and wellness ...

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