Lorenzo's oil -- a dietary supplement concocted by Virginia parents in a last-ditch effort to save their son's life -- appears to delay the effects of a rare genetic disease in young boys if taken early and in concert with a low-fat diet, according to the first long-term study of the treatment reported today in the Archives of Neurology.
The study followed 89 boys who had the genetic mutation for childhood cerebral adrenoleukodystrophy, and found that 74% of them remained healthy after 13 years.
The results "are very favorable," said Dr. Hugo W. Moser, a pediatric neurologist at Baltimore's Kennedy Krieger Institute who led the study. "In the general population, half of the boys with the genetic mutation develop severe neurological abnormalities by age 7."
The disease, which strikes about 1 in 30,000 children, develops when long-chain saturated fatty acids accumulate in the blood. The acids gnaw away at the protective myelin sheath that covers the brain's nerve fibers, depriving patients of the ability to speak, see and move within five years. The illness usually leads to death within seven years.
Most physicians wait for symptoms to appear before treating the disease. No effective therapies have been found.
The study "provides real hope that Lorenzo's oil can delay the onset of symptoms," said Dr. Raymond Ferri, a pediatric neurologist at the University of Washington, who was not involved in the research. "That means a lot because if the symptoms start older, we know then the course of the disease is much slower and people do much better."
Researchers have known since 1989 that Lorenzo's oil can reduce the level of dangerous fatty acids. The oil, a combination of fats extracted from kitchen products such as olive oil and rapeseed oil, was developed by Augusto and Michaela Odone, whose search for a cure for their son Lorenzo inspired the 1992 movie "Lorenzo's Oil."
Lorenzo Odone, now 27, can no longer move or speak.
The study began in 1989, when doctors began administering the oil to the 89 boys, then ages 4 and 5, who had the mutation on their X chromosome that leads to the disease.
When the boys were examined in 2002, 66 of them had normal neurological results and normal brain MRIs.
Based on the results of the study, Moser said, "we are recommending that doctors administer it to all boys with biochemical evidence of the disorder until the child reaches early adolescence, when the risk of developing it declines tenfold."
Moser acknowledged that the study wasn't as definitive as a randomized clinical trial. There was no control group because Moser did not want to give some patients placebos.
He has started 40 more boys on the treatment and is recommending that doctors administer the oil as a prophylactic because he says it has "no serious adverse side effects and probably dramatic benefits."
"Clearly it's superior to the present situation in which doctors treat the disease only when its symptoms have become evident and, tragically, irreversible," Moser said.
Augusto Odone said the study validated years of work by him and his wife, who died of lung cancer in 2000.
"The new research gives me the vindication I've long sought," he said from his home in northern Virginia, where he is recovering from a bone fracture. "Lorenzo's oil may not be a miracle for everyone with the disease, but for many, it works."