A Real-Life Sequel to 'Lorenzo's Oil'

He decided to do what he always did -- look for evidence. He started recruiting children for a clinical trial.

Because ALD runs in families, Moser identified several dozen boys from families who had other children with the disorder. He conducted complicated tests to spot boys at risk for the disorder but not symptomatic. He gave them Lorenzo's oil and followed them for as long as 10 years, eventually showing that the treatment was useful, but only if started early enough.

It took more than a dozen years after the movie hit the screen to reach this sober finding.

But even that was not enough. Because the complex tests used in the study were impractical to use on a mass scale, Moser knew he needed a simple blood test that could be incorporated into the national newborn screening program, which uses splotches of blood collected from the heels of all newborn babies to test for other disorders.

Only late last year, Moser's team discovered a way to spot a telltale sign of ALD in the kind of blood samples collected by the national screening program. It looked as if they had found the marker they had long pursued.

A Test That Would Work

Moser wanted to celebrate, but there were things left to do. The first was to prove that the test could detect ALD in actual samples from the newborn screening program.

Forty-eight squares of filter paper lie today in a Ziploc bag with a blue seal inside a refrigerator at the Kennedy Krieger Institute. Each square has a splotch of red that looks like a Rorschach test. With them is a letter dated Oct. 10, 2006, addressed to Hugo Moser. Inside the bag, the letter says, are eight samples of blood from newborns who later developed ALD, and 40 samples from newborns who turned out to be healthy.

The samples were sent to Moser by the state of California, which, through a combination of foresight and good luck, has preserved blood samples from millions of newborn babies, including several later found to suffer from ALD.

The pieces of filter paper look identical, but each has a unique code. Only the California officials know which ones belong to the ALD children. Federal officials watched closely as Moser prepared to apply his new diagnostic test. His task was to spot the eight positive samples and correctly identify the 40 negative samples.

Anticipating he had a winner on his hands, the neurologist applied for a patent on the test -- but only, he said, to keep the technique from being commercialized by others. If it worked, he wanted the discovery he had taken so many years to find to be free to the public.

In Fairfax, Augusto Odone was also keeping his fingers crossed. Moser's test could finally make Lorenzo's oil really useful.

The crucial experiment was about to get underway when Moser died. His wife, Ann, back in the lab last week only days after her husband's death, said the team was fine-tuning the test. The ALD samples obtained from California are so rare that the scientists want to make sure they do the test right the very first time. And it won't be enough just to prove the test works. Ann Moser and her colleagues need to make sure the technique they use is something that can be ramped up to a mass scale.

"He gave us all a mandate to continue with the work, particularly the newborn screening for ALD," Ann Moser said.

Results from the trial are expected in about six months, and the lab is confident. Federal officials are equally confident, which is why the Mayo Clinic in Rochester, Minn., is planning a trial with several thousand samples after the laboratory test is completed. Only when that study is done will the Moser team's inspiration have passed the rigorous tests of science, allowing officials to incorporate the test in the national screening program.

In the final days of his life, recognizing his time was running out, Moser seemed as frustrated with the slow pace of his own methodical science as the Odones once were with him. His life as a scientist had given him the long view on fighting a deadly disease; his own mortality had shown him what desperate parents of dying children feel.

"If I had a son with ALD and someone said, 'Put your boy in a controlled trial,' " Moser said, "I would say, 'Go to hell.' "