U team discovers ‘powerhouse’ new treatment in fight against deadly skin disease – Southernminn.com
By raymumme
Jonathan Pitre is a teenager who loves to write science fiction as an escape from the painful disease that causes his body to be coated with wounds.
But the breakthrough bone-marrow transplant he just received at the University of Minnesota is anything but fantasy.
A decade after performing the worlds first bone marrow transplants to treat epidermolysis bullosa a rare and potentially fatal skin disease university researchers believe they have discovered a powerhouse new formula that advances their research, helps the body grow new skin and will allow patients such as Pitre, 17, to live longer, less painful lives.
Its really not miraculous. It certainly isnt science fiction, said Dr. Jakub Tolar, director of the Us stem cell institute and the world leader in transplant therapies for EB. Its based on the hard work of our predecessors. You accomplish something and then you use that knowledge to enhance the next step and the next step.
When they conducted the first transplants using donor bone marrow and umbilical cord blood in 2007, Tolar and colleagues were trying to produce a collagen that binds skin together and is lacking in EB patients. But they had little certainty about the types of cells that would work best.
Since then, research discoveries have allowed them to home in on mesenchymal stem cells, which they believe are uniquely good at bullying their way into the body and producing the missing collagen.
This is the first time ever, that I know of, when you are infusing them with the goal that these cells will stay, Tolar said. They will graft into the skin, set up shop there. Its as if these mesenchymal stem cells are coming home.
The doctors have also focused on transplants involving bone marrow from relatives, which is more familiar to the body and less likely to be rejected by the recipients.
A transplant like Jonathans occurs in a one-two punch. After receiving radiation and chemotherapy treatments to suppress the immune system, the patient receives an infusion of hematopoietic blood stem cells from a donor. Their job in this procedure is to give the patient a new immune system that wont reject the donors mesenchymal cells when they are transplanted later.
Since the U received federal approval last fall to offer the treatment experimentally, seven patients have undergone the procedure.
Tolar said all seven are progressing though Jonathan needed a second transplant this spring because the first one failed to knock out his old immune system.
Jonathan suffered an infection after his most recent transplant, which forced him to return to the hospital this month with high fevers and blisters on his face and mouth. Even so, Jonathans mother, Tina Boileau, said she has been taking pictures since the latest transplant to document the progress for her son, whose back is covered with wounds but for a healthy spot on his right shoulder blade.
Theyre actually in scabs, a sign of healing, said Boileau, who was the bone marrow donor for her sons transplant. Which Ive never seen before.
10 patients died
EB afflicts about one in every 30,000 to 50,000 people, though some forms are more severe than others. While it is known largely for the grotesque skin wounds it causes, the disease is often fatal because it leads to severe infections or skin cancers. It can also create internal wounds to the patients digestive tract, which impairs eating.
The desperation of children with the disorder and their families compelled the first transplants at the university in 2007. Even using the old approach, about two-thirds of patients saw improvements, but 10 of the first 30 recipients died from their diseases or complications of treatment.
The Us latest success with mesenchymal stem cells might end up being an incremental step. Earlier this year, Tolar and his colleagues published research showing success in an even more advanced therapy: laboratory testing using gene editing that can reprogram the patients cells to produce healthy skin cells and tissue.
Further successes could lead to clinical trials in which a patients own dysfunctional cells would be reprogrammed, preventing the need for chemotherapy and the replacement of their immune systems.
Before they came to the U, Boileau said, her son had run out of options. Managing his pain, once possible with over-the-counter Advil, had come to require opioid painkillers such as methadone. That made him groggy and complicated his already awkward life at school back home in Ottawa. Jonathan wasnt even able to eat lunch in the school cafeteria for fear of being accidentally bumped and suffering fresh wounds.
Then the Canadian government approved funding to make him his countrys first recipient of an experimental bone marrow transplant for EB. And his home community rallied to support the family. Among other things, he has visited with pro hockey players from the Ottawa Senators, which also issued a contract adding him to their scout staff.
After seeing the pain her son has endured, Boileau said shell never complain about a blister from new shoes. She marvels at his optimism and his use of science fiction reading and writing to escape.
Inspired by the success of Christopher Paolini, who wrote the acclaimed Eragon science fiction novel as a teen, Jonathan has resolved to write his own science fiction book about a teen who develops the ability to overcome EB. The project resulted in long visits and e-mail exchanges between Tolar and his patient about medicine and physics, because Jonathan wants his story grounded in reality.
Theyre almost soul mates, Boileau said.
Tolar said he enjoys the intellectual relationship and that his patient is providing an example of hope and teaching others about the disease: He may be the only person [who] can bring this kind of view to others, Tolar said.
Original post:
U team discovers 'powerhouse' new treatment in fight against deadly skin disease - Southernminn.com
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