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Genetic Skin Disorder Treated with Adult Stem Cells

DailyIndia.com, November 4, 2007

In order to treat recessive dystrophic epidermolysis bullosa (RDEB), a first ever cord blood and bone marrow transplant was preformed on an 18-month-old boy by doctors at the University of Minnesota Children's Hospital, Fairview.

Affecting the gastrointestinal tract, esophagus, and mouth, RDEB causes skin to slough off on the inside of the body in these areas.  The boy has the most severe form of RDEB, and from a perfectly matched sibling, received both bone marrow and umbilical cord blood.

Along with collaborators from Columbia University, the disease has already been cured in mice by doctors using bone marrow.

Individuals with the condition lack a specific protein called type VII collagen.  The first stem was determining which type of adult stem cells would lead to the development of this protein.  A high proficiency in producing anchoring fibrils that bind the skin to the body was observed in one type of immature cell that was derived from bone marrow.

"Our goal is to determine the usefulness of stem cells, whether from the umbilical cord blood or adult tissues like bone marrow, in the treatment of human disease," said Dr. John E. Wagner, professor of Pediatrics and director of the Division of Hematology, Oncology, and Blood and Marrow Transplantation and director of clinical research of the Stem Cell Institute at the University of Minnesota.

"There are hundreds of thousands of children and adults waiting for new breakthroughs in stem cell research, and time is never enough. In two years, the team was able to move this project forward remarkably fast-from testing in animal models to treating patients. Time will tell whether this risky treatment will work as effectively in humans. But, RDEB is a horribly debilitating, life-threatening disease with no existing curative therapy," he added.

The doctors believe that they will be able to judge whether this treatment helped or not approximately 100 days following the transplant.  This would be around early 2008.

The skin's ability to produce type VII collagen necessary to anchor the skin and lining cells of the gastrointestinal tract to the body would be aided by a healthy blood system.  If this happens, it would mirror the results observed in the animal model say doctors.

"This represents a real change in thinking within the dermatological community. The possibility of this approach compels us to explore more broadly the way some skin diseases are typically treated," said Dr. Maria Hordinsky, head of the Department of Dermatology at the University of Minnesota and member of the care team.


 

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