“He was too big, too strong, too beautiful” said Nelly Rojo about her child - Luis Fernando.

Luis was unfortunately born with osteopetrosis, a rare and potentially fatal disease that occurs when the body cannot produce enough cells that destroy bone tissue (osteoclasts). As a result, too much bone is created, resulting in stunted growth, deformity, blindness and deafness.

In the first 11 months of his short, frail life, Luis Fernando Rojo has endured more than most adults ever will in their lifetime: two cord blood transplants, three stem cell transfusions, an intubation and, just a few months ago, the verdict that he had only a 5 percent to 10 percent chance to live.

Yet today he lives thanks to an experimental stem cell drug from Osiris given with special permission from the U.S. Food and Drug Administration. He is expected to go home for the first time within the next two weeks.

The condition is curable with a bone marrow or cord blood transplant, if the donor is a match. Too often, however, a match can’t be made.

“Because of the problem of rejection, we can cure less than 10 percent of kids because we can’t get the match,” said Dr. Steven Teitelbaum, the Messing professor of pathology at Washington University School of Medicine in St. Louis. Dr. Teitelbaum was a member of a team that first cured the disease in the 1980s.

Early in his life, Luis underwent two cord blood transplants from an unrelated donor. About a month after his second transplant, Luis developed a skin rash. In early July, his whole body was red and covered with blisters. He also started bleeding from the intestine. Luis had Graft-Versus-Host Disease (GVHD), a potentially deadly complication.

He did not respond to conventional treatments including administering high dose of steroids. There was 5 to 10% chance of survival.

“I was too sad and scared because he can die,” said Luis’s mother, who has been sleeping in a recliner chair by her son’s side since he was born. “He was crying a lot, and one week only cry and no stop, crying, crying.”

Osiris, a Baltimore company, is conducting phase II trial of an investigational stem cell drug, Prochymal, for severe GVHD in adults. Prochymal is a formulation of mesenchymal stem cells.

Dr. Kleiner decided to have Prochymal used for Luis after emergency permission from FDA and university’s institutional review board.

“The child had failed all standard therapies, and we knew these cells were available. The company is doing phase II trials for severe adult GVHD,” Kleiner explained. “We approached them to use it in the child as a last-resort effort.”

“Within two weeks of receiving the cells, Luis’s diarrhea had pretty much gone away, the rash dramatically improved and the GVHD came under control,” Kleiner said.

After two more stem cell transfusions in August “he’s been very stable, although he does have somewhat of a skin rash”.

Dr. Kleiner said “this potentially would make the whole transplant process safer because it provides another opportunity to treat severe cases”.

Dr. Teitelbaum added: “This agent blocks a major complication of rejection of a transplant. If, in fact, it works, then this would hopefully permit the use of non-genetically identical stem cells in these transplants.”

Link [www.gjsentinel.com/health/content/shared-auto/healthnews/bird/528552.html]