PUCK supports pioneers in the medical field who have opened up new areas for children with Epidermolysis Bullosa (EB). They have done this by providing a therapy of using a mixture of stem cells developed by the world renowned Blood and Marrow Transplant (BMT) Program at University of Minnesota Amplatz Children's Hospital, which performs more pediatric BMTs than any institution in the world.
A child born with EB has a deficiency of one of several proteins that anchor the skin to the body. One such protein is C7—an important form of collagen. Without enough of these proteins, the skin tears and pulls away from body easily, causing serious wounds and recurrent blistering. In severe cases of EB, the soft tissues inside the body are often also affected, such as the lining of the mouth, esophagus, stomach and intestines. Many children with the severest forms of EB often do not reach their teenage years, and some die in infancy
Unlike organ transplants, a bone marrow transplant is not a surgical process. It is more like a blood transfusion. The challenging part of the BMT process is managing the complications following the transplant, when the patient is extremely susceptible to infection.
Researchers at the University of Minnesota have been studying the use of stem cells to treat children with severe EB—in particular the recessive dystrophic and junctional forms of the disease. The initial results of using stem cells for the treatment of EB have been very encouraging. So far, the results have clearly demonstrated that stem cells from a healthy donor find their way (home) to the skin and secrete the protein that is missing in EB. For the patient, this can mean a substantial reduction in blistering and enhanced healing of the skin.
Physicians and researchers at the University of Minnesota are already exploring newer and safer ways to treat EB and improve the quality of life for those who have the disease. They continue to develop new treatments for EB using different kinds of stem cells.
Ongoing research includes:
Our EB program is led by John E. Wagner, M.D., and Jakub Tolar, M.D., Ph.D., world-renowned experts in transplant medicine and EB-related clinical care and research.
The EB program at University of Minnesota Amplatz Children's Hospital includes expert health care providers from a variety of specialties. These include dermatology, infectious diseases, anesthesiology, pediatric surgery, gastroenterology, nephrology, nutrition, and pain management. Each of these University of Minnesota Physicians' specialists is now experienced in the complex care required for patients with severe EB. Our expert multidisciplinary team makes every effort to ensure that the care we provide meets the unique needs of each patient and family.
Money goes to research being done at the University of Minnesota. The research includes understanding animal models to find what the stem cell population is that makes skin and to figure out how to isolate it from human marrow. Also to do the clinical trials and to rebuild the immune system in children with EB and make blood and skin forming stem cells that are normal from EB patients.