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    EB’s great hope


    Skin rejuvenation revealed

    The study showed a type of stem cell, called holoclone, to have the highest ability to self-regenerate. This a tremendous discovery that has application to other studies involving genetic modifications, Dr. Price.

    “The patient has been described as not developing skin cancer, tumors or other related events. It seems like they think there is this sustainable holoclone that remains relatively constant as these cells turn over every month, and that’s how they produced the graft,” she says. “We are going to learn a lot more about keratinocytes and turnover of the skin and these stem cells based on this type of therapy.”

    Similar work in the U.S.

    Dr. TangU.S. researchers, including at Stanford University, are conducting similar trials for epidermolysis bullosa.

    “We have treated seven adult patients with epidermolysis bullosa, the recessive dystrophic kind,” says Jean Y. Tang, M.D., Ph.D., a dermatologist at Stanford University School of Medicine.

    “We take the skin biopsy, grow it in the lab, and then we use a virus to insert in the wild-type defective collagen VII gene. Then, we grow gene therapy or gene-corrected skin grafts and take the patients to the operating room,” she said.

    She has treated six wounds on seven patients with the gene therapy grafts.

    “The good news is the gene therapy grafts heal the chronic wounds — though, not forever but for about six to 12 months. We consider this a treatment to heal the chronic wounds that otherwise wouldn’t heal in these recessive dystrophic epidermolysis bullosa patients,” Dr. Tang says.

    Another difference in the research being done at Stanford is that the researchers there are not aiming to replace the entire skin.

    Dr. Tang and colleagues reported results of their work in the Journal of the American Medical Association in November 2016.

    “We are getting ready to start a phase three clinical trial, now treating children and adults with recessive dystrophic epidermolysis bullosa,” she says. “Hopefully, after this phase three clinical trial, the FDA will evaluate our results and determine whether this could be a new drug for wounds of patients with recessive dystrophic epidermolysis bullosa.”

    Dr. Tang says the research going on worldwide to restore epidermolysis bullosa patients’ damaged skin is a beautiful example of understanding the basic biology.

    “It’s understanding that the gene defect in these patients makes them unable to make collagen VII, which allows the epidermis and dermis to stick together. That’s why they have fragile skin,” Dr. Tang says. “And when you take a biopsy of the patient’s own cells, and now put in the wild-type gene, you get functional, normal skin. It’s one of the first examples of gene therapy being applied to patients, and a beautiful example of really personalized medicine.”

    A cure?

    While it is a great step forward, it’s a disease-modifying procedure — not a cure, according to Dr. Pope.

    “The limitation of this technique is that it does not deal with internal manifestations of the disease that are equally, if not more, life altering. In addition, it is too early to know how long lasting the effects on the skin will be. It is very impressive work and I think this is where medicine in general is going—the genetic pathways targeting what is wrong with the skin and trying to fix that in some way,” she said.

    What dermatologists can do now for patients

    Now is the time to start talking with patients who have severe epidermolysis bullosa about gene therapy research.

    “If you have patients you think would be good candidates, refer them early and get them in touch with these investigators,” Dr. Price says.

    Dermatologists who care for these patients should consider participating in the epidermolysis bullosa patient registry of the Epidermolysis Bullosa Clinical Research Consortium (EBCRC).


    1. Hirsch T, Rothoeft T, Teig N, et al. “Regeneration of the entire human epidermis using transgenic stem cells,” Nature. November 2017. DOI:10.1038/nature24487.

    2. Siprashvili Z, Nguyen NT, Gorell ES, et al. “Safety and Wound Outcomes Following Genetically Corrected Autologous Epidermal Grafts in Patients With Recessive Dystrophic Epidermolysis Bullosa,” JAMA. Nov. 1, 2016. DOI:10.1001/jama.2016.15588.

    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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