University of Minnesota Children's Hospital, Fairview physicians have performed the first bone marrow and cord blood transplant to treat recessive dystrophic epidermolysis bullosa (RDEB).
Children with RDEB lack a protein that anchors skin to the body, resulting in fragile skin that sloughs off with little movement or friction. They suffer painful wounds and must be bandaged at all times to protect their skin from further damage and infection. 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, affecting the mouth, esophagus, and gastrointestinal tract. EB is genetic and severe forms are always fatal. Those who live to be young adults get an aggressive form of skin cancer called squamous cell carcinoma.
With the help of an EB mouse model and in collaboration with investigators at Columbia University, University of Minnesota researchers were able to correct the disease in mice using bone marrow. They tested various types of adult stem cells to determine which would give rise to the development of type VII collagen – the protein people with RDEB lack. One type of immature cells from bone marrow proved to be the best at producing anchoring fibrils that bind the skin to the body.
This is the first time physicians have approached EB from a systemic perspective, using transplant as a means to rid the body of the defective blood system and replace it with a healthy blood system that produces type VII collagen.