Lorenzo

Aug 11, 2005

By Virginia A . Smith Philadelphia INQUIRER STAFF WRITER

Every night, Robbie Thompson mixes 3 1/2 tablespoons of a pale-yellow oil into a glass of orange juice and downs it on the spot.

It looks like vegetable oil, and it's not especially appetizing. But the Rosemont teenager doesn't seem to mind. The nightly ritual may be saving him from a devastating illness.

The oil in Robbie's juice is " Lorenzo 's oil," a compound developed by Augusto and Michaela Odone of Fairfax, Va., to treat their young son Lorenzo . He had been diagnosed in 1984 with a rare and incurable disease - adrenoleukodystrophy, known as ALD.

The Odones' frantic search for a cure was dramatized in the 1992 movie Lorenzo 's Oil. In the film, as in real life, doctors, scientists, even other parents scoffed at the idea that two amateurs - albeit a sophisticated economist and a linguist - could manage a breakthrough when the experts couldn't. But now it appears that's exactly what they did.

A study in last month's Archives of Neurology reports that Lorenzo 's oil - when given to youngsters like Robbie who have the ALD gene but no symptoms yet - may prevent the disease from developing. This is the first time the oil's preventive effects have been scientifically validated in a clinical study.

"I use the word vindication because finally, after 20 years, what my parents did is being proved right," said Cristina Odone, Lorenzo 's half-sister, in a telephone interview from the Odone family home in Gamalero, Italy, where she spends her summers.

The study followed Robbie and 88 other boys 7 years or younger who had the abnormal gene but normal neurological exams. Over seven years, they were treated with daily doses of Lorenzo 's oil - actually a combination of two fats extracted from olive and rapeseed oils - and a moderately fat-restricted diet. Rapeseed oil, long used for cooking in Europe and Asia, is often marketed as canola oil.

At the end of the study, 66 of the 89 boys showed no signs of disease. Robbie, now 15 and a 10th grader at the Shipley School, was among the lucky ones.

"Pretty damned definitive," said the study's lead author, Hugo W. Moser, director of the Neurogenetics Research Center at the Kennedy Krieger Institute in Baltimore, which treats children with neurological disorders.

ALD, which is caused by a genetic defect passed from mother to son on the X chromosome, affects 16,000 in the United States and 200,000 worldwide. The disease destroys the white myelin sheath, an insulating membrane that surrounds nerve cells in the brain. These cells, or neurons, allow us to think and control our muscles.

The destruction is believed to be caused by a buildup of saturated very long-chain fatty acids in the brain. While it can't cure ALD or reverse neurological damage from it, Lorenzo 's oil does reduce the amount of abnormal fatty acids in the body - thus preventing the breakdown of myelin.

The most severe form of ALD, and the most common, strikes boys from 4 to 10 years of age, robbing them of their ability to function mentally and physically in as little as two years and moving quickly to paralysis and death.

Half of boys with the ALD gene develop the disease.

The adult form of ALD does not affect the brain and progresses over decades, but it can be severely disabling. In March, Moser launched a three-year, placebo-controlled study of 240 men with ALD to see if Lorenzo 's oil would work for them.

"If it has a positive effect, we will stop the trial and give everyone the oil," said Moser, who has been studying ALD for more than 40 years.

Adult ALD is frequently mistaken for multiple sclerosis, which has some of the same symptoms, including spasticity and weakness in the legs.

"When we take the family history on the little boy with ALD, we so frequently hear, 'Oh, yes, his uncle has MS,' " Moser said. "Then when we test the uncle, we see he has ALD. We have seen that hundreds of times. "

Robbie, whose family plans to keep him on Lorenzo 's oil and a low-fat diet indefinitely, was tested after a cousin in his 20s was diagnosed with adult ALD. Turns out Robbie's grandfather also had it, after originally being told he had MS.

Moser diagnosed Lorenzo , a precocious child who spoke English, French and Italian, in 1984 when he was 6. Over the next few years, his parents absorbed all they could about ALD and genetics, biochemistry and neurology, finally convincing a British chemical company to produce the oil they believed would help their son.

Moser was not the only skeptic. "The medical profession felt there was no evidence that it made a difference," he said.

Today, Moser is good friends with Augusto Odone, who has patented the oil and is listed as a coauthor of the journal article. Michaela Odone died of cancer in 2000.

Lorenzo 's oil came too late to prevent symptoms in their son, who is 27 and living with his father in suburban Virginia. He is cared for by nurses and Oumouri Hassane, a young man the family befriended when they lived in the Comoros Islands off East Africa, just before Lorenzo was diagnosed.

At the time, Odone worked as a World Bank economist.

He said that Lorenzo now cannot see, hear, speak or move on his own. He communicates by wiggling his fingers and blinking his eyes.

He has lived far longer than his doctors predicted, causing Moser to wonder: "Is that attributable to the wonderful care he's getting, or is Lorenzo 's oil contributing to that? "

It's possible the oil has played a role, he said, adding, "I would have answered that question differently five years ago. "

Lorenzo 's father, who founded the Myelin Project to promote research on myelin repair, said he believes his son is better off for taking the oil all these years.

"Remember, Lorenzo started the oil when he was symptomatic," Odone said, "but it's my feeling that it has helped. "

Cristina Odone, who plans a trip home this month, calls her father and late stepmother "iconic activist parents" for overcoming hostility from the medical establishment and the backlash created by Lorenzo 's Oil, which many - including Moser, at the time - thought offered false hope.

"There was no lying back, no passivity, no fatalism on their parts," Cristina Odone said. "That's a very important lesson for patients around the world to learn. "

Contact staff writer Virginia Smith at 215-854-5720 or vsmith@phillynews.com.