Stem cell transplantation shows promise for dystrophic epidermolysis bullosa
MedWire News: Initial study results suggest that bone marrow transplantation shows promise for the treatment of children with severe recessive dystrophic epidermolysis bullosa (RDEB).
"Whether stem cells from marrow could repair tissues other than itself has been quite controversial," said lead investigator John Wagner from the University of Minnesota in Minneapolis, USA.
"But in 2007 we found a rare subpopulation of marrow stem cells that could repair the skin in laboratory models. This astounding finding compelled us to test these stem cells in humans. This has never been done before."
Writing in the New England Journal of Medicine, the researchers report results from a small experimental study in which seven children between the ages of 15 months and 14.5 years were given immunomyeloablative chemotherapy and allogeneic stem-cell transplantation for treatment of severe RDEB.
One patient died before transplantation could take place. Of the remaining patients, all had improved wound healing and reduced blister formation 30-130 days after transplantation. Five of the six also had increased deposition of type VII collagen, which is normally low or absent in these patients, at the dermal-epidermal junction, although normalization of anchoring fibrils was absent.
One patient had severe regimen-related cutaneous toxicity. Five of the participants were alive 130-799 days after transplantation, but one died at 183 days due to graft rejection and infection.
RDEB is an incurable and often fatal blistering skin condition, which is caused by loss-of-function mutations in the gene that encodes type VII collagen (COL7A1).
The premise of the study was based on results from a previous study in mice genetically engineered to have the same mutation (col7-/-) that showed biochemical correction and prolonged survival following bone marrow transplant.
"This discovery is more unique and more remarkable than it may first sound because until now, bone marrow has only been used to replace diseased or damaged marrow," said study co-author Jakub Tolar, also from the University of Minnesota.
"To understand this achievement, you have to understand how horrible this disease actually is," said Wagner. "From the moment of birth, these children develop blisters from the slightest trauma which eventually scar. They live lives of chronic pain, preventing any chance for a normal life. My hope is to do something that might change the natural history of this disease and enhance the quality of life of these kids."
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By Helen Albert