Researchers Announce Cure for Once Fatal Disease
University of Minnesota researchers perform first successful transplant for Recessive Dystrophic Epidermolysis Bullosa on young boy.
Researchers at the University of Minnesota announced today that they have set the path to a cure for an often fatal genetic disorder called Recessive Dystrophic Epidermolysis Bullosa (EB) by using umbilical cord blood and bone marrow transplant. Nate Liao, a two year old from New Jersey, underwent this experimental therapy in October of 2007.
Lead study investigator and Children's Cancer Research Fund Chief Medical Advisor, Dr. John E. Wagner said "Maybe we can take one more disorder off the incurable list," hopes Wagner, "It's not often that you feel like you hit a homerun in medical research, but this one feels like it."
Private funding and a grant from Children's Cancer Research Fund allowed this research to happen remarkable quickly and ultimately made this discovery possible.
What is Recessive Dystrophic Epidermolysis Bullosa
People with RDEB lack a protein needed to produce collagen VII, which anchors the outer skin layer (epidermis) to the inner layer (dermis). As a result, any action that creates friction between the layers - even a hug or a slight bump - can cause the skin to blister and peel.
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.
Those suffering from severe forms of RDEB also face skin sloughing off on the inside of the body, affecting the mouth, esophagus, and gastrointestinal track.
How was this discovery made?
Nate's clinical trial was made possible through collaboration between the University of Minnesota and Columbia University along with investigators from Asahikawa Medical College and Jefferson Medical College. With the help of an EB laboratory model, investigators were able to correct the disease using bone marrow.
This was the first time physicians had approached EB from a systemic perspective, using a 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.
The Transplant
In October of 2007, Nate received a prepartive regimen on chemotherapy followed by an infusion of stem cells from umbilical cord blood along with bone marrow from a healthy sibling. Over the next six months, the skin and lining of his GI tract slowly improved and skin biopsies showed increasing amounts of collagen VII.
Next Steps
Nate's brother, Jake who also suffers from EB, recently underwent a cord blood transplant from an unrelated donor. Because there was not an exact match for Jake, this transplant is considered a higher risk. Dozens of other people afflicted with EB are also seeking this new innovative treatment. A clinical trial is beginning soon.
Children's Cancer Research Fund is further supporting research focused on improving the existing therapy and broadening the approach to other forms of EB.
For nearly 30 years, Children's Cancer Research Fund has provided funding to support innovative research efforts in the field of childhood cancer and other devastating childhood diseases. The funds provided by Children's Cancer Research Fund have contributed to many medical firsts in the field of pediatric oncology. Over the past 40 years the cure rate for childhood cancer has risen to nearly 80%.