Halting A Genetic Threat

Meredith
Purvis
Hugo Moser's widow Ann leads ALD screening efforts in newborns.

Jose Casso Drinking Lorenzo's OilRamón and Maritza Casso loved their first born son, Juan, with all of their hearts. Like many parents they wanted far more for him than they wanted for themselves. And when their second son, José, arrived seven years later, they felt the same way. Juan and José, the sons of immigrants from the Dominican Republic, lived with their parents in a third-floor apartment north of the nation's capital, where all seemed right.

Then Juan began to experience vision loss. Concerned, his parents took him for an eye exam, which he passed. After that, they visited a neurologist who eventually diagnosed Juan with adrenoleukodystrophy (ALD).

Staggered and in search of hope, the Cassos were directed to Kennedy Krieger, where Dr. Moser was conducting his study on Lorenzo's Oil. Dr. Moser and Dr. Gerald Raymond suggested that one-year-old José be tested for the same genetic liability as his older brother.

Results were positive, doubling the Cassos' fears. Sadly, they learned, it was too late for Juan, who was symptomatic and showing obvious signs of ALD. He lived for eleven more years, then passed away in 2005. But José, who wasn't showing signs of the disease, immediately began taking daily doses of Lorenzo's Oil that he still takes to this day. At the time, Dr. Moser theorized that the oil would keep presymptomatic children from ever developing the disease. The result of the study has shown this to be true and, thankfully, José has never developed any symptoms of ALD. "I am a true believer," Ramón says. "José is doing wonderfully."

Research suggests that outcomes like José's are most likely the earlier a patient with ALD begins therapeutic treatment with Lorenzo's Oil. Unfortunately, very few children are tested for ALD in infancy.

That may change within a few years, thanks to the efforts of Ann Moser, Dr. Hugo Moser's widow and a research scientist in neurology at Kennedy Krieger. Moser is spearheading efforts to incorporate screening for ALD in the slate of tests most babies receive before they leave the hospital.

Although an effective test for ALD has existed since the early 1980s, it is not appropriate for broad-based newborn screening.

"To incorporate a test in the panel of neonatal screenings, it must be able to piggyback on the current technology," says Ann. "It must be highly automated and suitable for state labs that run as many as 200 screens per day using whole blood samples."

The Mosers and colleagues published the promising new method in June 2006. Currently, the research continues to be perfected on anonymous newborn blood spots and samples from known positive ALD newborns, but Ann will soon begin working with three Baltimore-area hospitals to survey 5,000 newborns. Because ALD testing is not part of the state-mandated newborn screening, a genetic counselor must secure permission from the parents of each child surveyed.

Once this phase is completed, Ann and her team will work with the Centers for Disease Control and Prevention to initiate the survey of 100,000 newborns through one of six regional screening centers. Some of the regional facilities have permission to conduct add-on tests without employing genetic counselors.

Each of these testing phases should take about a year, after which she hopes more and more states will begin incorporating the ALD screen into their mandated newborn testing programs.

"We envision universal newborn screening and early identification of the disorder,"says Ann. "It was my husband's dream to have this neonatal screening introduced and implemented worldwide."

Making that dream a reality is crucial to Ann and her team, and holds great promise and hope for those who are genetically liable to develop ALD.

"Ideally, once these tests are implemented," concludes Ann, "we will never again see a boy with the symptoms of ALD."