U of M performs first systemic therapy for fatal childhood disease

November 02, 2007

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.

"Our goal is to determine the usefulness of stem cells, whether from the umbilical cord blood or adult tissues like bone marrow, in the treatment of human disease," said John E. Wagner, M.D., professor of Pediatrics and director of the Division of Hematology, Oncology, and Blood and Marrow Transplantation and director of clinical research of the Stem Cell Institute at the University of Minnesota. "There are hundreds of thousands of children and adults waiting for new breakthroughs in stem cell research, and time is never enough. In two years, the team was able to move this project forward remarkably fast--from testing in animal models to treating patients. Time will tell whether this risky treatment will work as effectively in humans. But, RDEB is a horribly debilitating, life-threatening disease with no existing curative therapy."

The boy received both umbilical cord blood and bone marrow from a perfectly matched sibling. If the results mimic the animal model, doctors anticipate the healthy blood system will aid in the skin's ability to produce type VII collagen necessary to anchor the skin and lining cells of the gastrointestinal tract to the body. Doctors anticipate in early 2008--approximately 100 days after transplant--they will be able to judge whether this the treatment helped.

"This represents a real change in thinking within the dermatological community. The possibility of this approach compels us to explore more broadly the way some skin diseases are typically treated," said Maria Hordinsky, M.D., head of the Department of Dermatology at the University of Minnesota and member of the care team.
-end-
The pediatric BMT program at the University of Minnesota Children's Hospital, Fairview is internationally recognized for its pioneering work in umbilical cord blood and bone marrow transplantation, including the world's first successful BMT in 1968. In 2000, Wagner and team performed the first umbilical cord blood transplant from a sibling donor "created" after embryo selection. The program leads the nation in the use of umbilical cord blood in the treatment of adults and children and in the development of innovative treatments of various rare genetic diseases such as adrenoleukodystrophy (ALD) and Fanconi anemia.

The transplant was done as part of a clinical trial funded by donations made to the University of Minnesota EB Fund and Children's Cancer Research Fund in Minneapolis.

University of Minnesota

Related Stem Cells Articles from Brightsurf:

SUTD researchers create heart cells from stem cells using 3D printing
SUTD researchers 3D printed a micro-scaled physical device to demonstrate a new level of control in the directed differentiation of stem cells, enhancing the production of cardiomyocytes.

More selective elimination of leukemia stem cells and blood stem cells
Hematopoietic stem cells from a healthy donor can help patients suffering from acute leukemia.

Computer simulations visualize how DNA is recognized to convert cells into stem cells
Researchers of the Hubrecht Institute (KNAW - The Netherlands) and the Max Planck Institute in Münster (Germany) have revealed how an essential protein helps to activate genomic DNA during the conversion of regular adult human cells into stem cells.

First events in stem cells becoming specialized cells needed for organ development
Cell biologists at the University of Toronto shed light on the very first step stem cells go through to turn into the specialized cells that make up organs.

Surprising research result: All immature cells can develop into stem cells
New sensational study conducted at the University of Copenhagen disproves traditional knowledge of stem cell development.

The development of brain stem cells into new nerve cells and why this can lead to cancer
Stem cells are true Jacks-of-all-trades of our bodies, as they can turn into the many different cell types of all organs.

Healthy blood stem cells have as many DNA mutations as leukemic cells
Researchers from the Princess Máxima Center for Pediatric Oncology have shown that the number of mutations in healthy and leukemic blood stem cells does not differ.

New method grows brain cells from stem cells quickly and efficiently
Researchers at Lund University in Sweden have developed a faster method to generate functional brain cells, called astrocytes, from embryonic stem cells.

NUS researchers confine mature cells to turn them into stem cells
Recent research led by Professor G.V. Shivashankar of the Mechanobiology Institute at the National University of Singapore and the FIRC Institute of Molecular Oncology in Italy, has revealed that mature cells can be reprogrammed into re-deployable stem cells without direct genetic modification -- by confining them to a defined geometric space for an extended period of time.

Researchers develop a new method for turning skin cells into pluripotent stem cells
Researchers at the University of Helsinki, Finland, and Karolinska Institutet, Sweden, have for the first time succeeded in converting human skin cells into pluripotent stem cells by activating the cell's own genes.

Read More: Stem Cells News and Stem Cells Current Events
Brightsurf.com is a participant in the Amazon Services LLC Associates Program, an affiliate advertising program designed to provide a means for sites to earn advertising fees by advertising and linking to Amazon.com.