Setting a new standard of care

Physicians at the University of Minnesota and University of Minnesota Children's Hospital, Fairview, are on the road to a cure for a young boy's fatal genetic skin disease, recessive dystrophic epidermolysis bullosa (RDEB).

Nate Liao, a 25-month-old boy from Clarksburg, New Jersey, underwent an umbilical cord blood and a bone marrow transplant, an experimental therapy, in October 2007.

"We have established a new standard of care for EB patients, beginning with Nate," says John Wagner, M.D., the lead University of Minnesota Medical School physician who developed the clinical trial. "Nate's quality of life is forever changed."

Correcting a genetic defect

Because they lack collagen type VII, children with RDEB have extremely delicate skin. The skin and lining of their gastrointestinal tract tear and blister with minimal friction. Coughing and vomiting often result in tears in the lining of the esophagus and stomach.

Those affected must have their entire bodies wrapped in bandages. Left untreated, they succumb from malnutrition and infection in childhood; all eventually acquire a uniformly fatal, aggressive skin cancer in young adulthood.

This is the first time physicians have approached the treatment of RDEB from systemically, using marrow-derived stem cells throughout the body as a means to replace missing collagen.

Through the infusion of cells obtained from a healthy donor, the stem cells produce collagen type VII and correct the underlying genetic defect.

A brighter future

Nate Liao received marrow- and umbilical cord blood-derived stem cells and progenitor cells from his healthy, tissue-matched brother, Julian.

Based on the therapy's success for Nate, Wagner will enroll additional RDEB patients in the clinical trial. Jacob Liao, Nate's brother, who also has RDEB, received an unrelated-donor cord blood transplant on May 30.

Using private donations made to the University of Minnesota EB Fund and Children's Cancer Research Fund, Wagner and his colleagues are already investigating ways to improve on the existing therapy and broaden the approach to treat other forms of EB and other collagen-based diseases.

To learn more about Nate's progress and Wagner's research, visit http://www.ahc.umn.edu/eb/. To learn more about supporting EB research, e-mail Elizabeth Patty or call her at 612-273-8638.

If you are interested in contributing to Epidermolysis Bullosa Research, you can give online today.

All gifts are processed using Verisign. The Minnesota Medical Foundation secures all transactions with strong encryption and rigorous authentication. We are committed to protecting your privacy and security.