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Pioneering Research

Target Disease: Epidermolysis Bullosa

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.

What is Epidermolysis Bullosa (EB)?

What is a BMT?

What is the BMT process?

How can the BMT help with EB?

What ongoing research is the University of Minnesota doing?

Why the University of Minnesota?

Where is the money raised by PUCK going to?

What is Epidermolysis Bullosa (EB)?

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

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What is a BMT?

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.

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What is the BMT process?

Pre-Transplant

  • Finding a Donor and Harvesting Stem Cells
    The medical team will look for a donor that is either a relative or from the National Marrow Donor Program or cord blood registries. Once a donor is identified, stem cells are harvested using one of three resources including bone marrow, peripheral blood and umbilical cord blood.
  • Pre-Transplant Evaluation
    Before the BMT process begins, your child will need to have a medical examination to evaluate their eligibility for transplant.
  • Pre-Transplant Conference
    You will meet with one of the transplant physicians to discuss your child's workup evaluation results.

Transplant

  • Preparation for Treatment
    The preparatory regimen includes performing laboratory and diagnostic tests, along with the giving high doses of chemotherapy and/or radiation.
  • The Transplant
    During the transplant, stem cells that have been previously collected are given to the patient. The transplant itself is similar to a blood transfusion and takes about an hour or less

After Transplant Care

  • Post-Transplant
    During the weeks before the newly transplanted stem cells produce new blood cells, a patient's body is unable to produce white blood cells, increasing his or her risk of infection. Patients are closely monitored and receive medications to prevent infection. They are also kept in protective isolation on the BMT unit.
  • Going Home
    Your child's healthcare team will work with you to determine when it is time for your child to leave the hospital.
  • Long-Term Care
    Our staff, along with your primary physician will monitor your child's health and well-being
  • Long-Term Follow-up Program
    The University of Minnesota Blood and Marrow Transplant program has developed an extensive long-term follow up program to provide risk-based health care and surveillance to transplant survivors.

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How can the BMT help with EB?

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.

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What ongoing research is the University of Minnesota doing?

Ongoing research includes:

  • Which types of stem cells are responsible for the favorable effects on EB
  • How donor cells find their way to a child's injured skin
  • How to prepare the donor stem cells in a way that would deliver the highest amount of the missing protein to wounds in the skin and other tissues
  • Safer and more effective delivery of drugs that will enhance stem-cell homing and engraftment (i.e., that the donor's cells will "take" and live in the patient long-term)
  • New methods of stem cell delivery, such as by direct injection into wounds
  • New research using additional stem cells, called mesenchymal stem cells, for tissue repairs, is also underway.
  • Other research includes using the patient's own skin to create genetically corrected stem cells that are capable of making different kinds of tissue

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Why the University of Minnesota?

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.

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Where is the money raised by PUCK going to?

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.

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