University of Minnesota Children’s Hospital physicians reported performing the first bone marrow and cord blood transplant to treat recessive dystrophic epidermolysis bullosa, or RDEB.

Children with the disease lack a protein that anchors skin to the body, resulting in fragile skin that sloughs off with little movement or friction. The 18-month-old boy who was transplanted has the most severe form of RDEB, which also causes skin to slough off on the inside of the body and is nearly always fatal.

Using a mouse model -- and in collaboration with investigators at Columbia University and the University of Minnesota -- researchers corrected the disease using bone marrow. They then determined which human adult stem cells would give rise to the development of type VII collagen -- the protein RDEB victims lack.

The boy received both umbilical cord blood and bone marrow from a perfectly matched sibling. Doctors anticipate being able to judge whether the treatment was successful by early next year.