It’s heartbreaking to watch this February 2018 video of Jonathan Pitre, the Canadian teen with epidermolysis bullosa (EB), who advocated for patients and fought so hard to be rid of his disease, and sadly died two months after the video below was published. He was the face of EB for many Canadians, and others around the world, who watched his struggle and prayed that a stem cell transplant would save his life.
EB is back in the news as National EB Awareness Week kicks off.
Reports from Ireland indicate that researchers at University College Dublin have produced a “gel-like treatment” that inserts a functioning gene into skin cells and appears to work with one form of EB. Dr. Wenxin Wang and his team are hopeful this gel will make functioning skin and improve the healing of patients who suffer from this fatal, rare disorder. It is not being touted as a cure. (One in 17,000 births result in EB.)
Debra Ireland, a chapter of an international charity that funds research into EB, is optimistic about the gel. Dr. Sinead Hickey, Head of Research, says “[…] this gel could make skin stronger and could improve life expectancy as a result. It may also prevent wounds in the first place. If there are no wounds, then patients will suffer fewer infections, feel less pain, less itch and develop less skin cancer. An “unidentified pharmaceutical company” has now taken over the development of this treatment (as reported in Silicon Republic).
This gel appears to be good news. So what is happening to treat EB on the regenerative medicine front? Dr. Jakub Tolar, an expert in this field and the clinician who treated Jonathan Pitre, is optimistic stem cell transplants are a promising treatment for patients who suffer with severe EB, as Jonathan did. Overall survival for 30 patients with a particular form of EB, who have been treated at University of Minnesota Masonic Children’s Hospital, is 77 percent, as of July 2017. Dr. Tolar speaks of Jonathan’s strength and bravery here.
Last year blogger Nicole Forgione reported on research led by Dr. Michele De Luca to regenerate the entire skin surface area of a patient with EB. The researchers were using an ex vivo gene therapy to correct mutations in laminin coding genes in skin cells. The gene-corrected skin cells were used to produce skin grafts that were transplanted onto the patient. That was a clinical trial of one, so we’ll have to watch for more in this area.
With many groups working on different strategies to treat this excruciatingly painful disease, hopefully it will be eradicated one day soon or at least made tolerable for those who live with it. Rest in peace Jonathan Pitre.
Stacey Johnson
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