Hopkins doctor studied rare disorder ALD
By Jacques Kelly and Dennis O'Brien
Sun reporters
Originally published January 23, 2007

Dr. Hugo Wolfgang Moser, a renowned Baltimore neurologist whose work with a rare genetic disorder was depicted in the 1992 film Lorenzo's Oil, died Saturday at Johns Hopkins Hospital of surgical complications after treatment for pancreatic cancer. He was 82.

The Swiss-born Dr. Moser, portrayed in the movie by actor Peter Ustinov, spent his life researching the scientific basis of childhood mental retardation and advocated testing all newborns for the condition known as adrenoleukodystrophy, or ALD.

He was director of the Neurogenetics Research Center at the Kennedy Krieger Institute, a professor of neurology and pediatrics at the Johns Hopkins University School of Medicine, and was conducting research into ALD treatments for children and adults

"Most people would retire at 65," said Dr. Gary Goldstein, president of Kennedy Krieger. "But the most productive part of his life happened in the past 20 years. He signed a grant application on the way to the operating room [for his surgery] last fall. He wanted to get this disease cured before he died."

"Hugo was really one of the giants of neurology," said Dr. Douglas Kerr, a professor of neurology at the Hopkins medical school. "He's trained countless neurologists, and I'd consider him a model of how we all want to do neurology."

Dr. Moser's wife and longtime research partner, Ann Boody Moser, described him as a workaholic. Goldstein agreed, adding, "He was a tireless worker. His car was the first one in the parking lot in the morning, and it was the last one out at night. He gave his life to his research."

But the Roland Park resident made time to attend Baltimore Symphony Orchestra and Shriver Hall concerts, and Baltimore Opera Co. productions.

Born in Bern, Dr. Moser spent his early childhood in Berlin, where his father, Hugo L. Moser, was an art dealer and his mother, Maria, was an actress. He considered becoming a concert pianist, but early on switched to science.

His family fled Nazi Germany in 1933 and lived in Heemstede, Holland. In 1940, they crossed France, Italy, and Spain and finally embarked to Cuba before obtaining visas to reach New York. He attended Harvard College from 1942 to 1943, and left to enter military service.

He received his medical degree from Columbia University in 1948.

In 1950, he moved to Boston to become an assistant in medicine at Peter Bent Brigham Hospital. He served in Korea as an Army physician before returning to Harvard to earn a master's degree. He was a resident in and later professor of neurology at Massachusetts General Hospital until 1976.

He came to Baltimore that year as a professor of neurology and pediatrics at Johns Hopkins and president of the John F. Kennedy Institute, now the Kennedy Krieger Institute, which is internationally known in the field of pediatric developmental disabilities. He remained as its president until 1988.

As a neurologist, Dr. Moser studied childhood genetic disorders and when he came to Kennedy Krieger, he had already developed an interest in ALD, a crippling and ultimately deadly childhood disorder.

By the 1980s, Dr. Moser and his wife were working to develop a screening technique that would enable detection of ALD at birth.

The rare disease is caused by a genetic mutation that leads to the accumulation of substances called very long chain fatty acids in cells. That, in turn, damages the myelin, the material that coats nerve fibers in the brain, much like the insulating material that protects telephone wire. The myelin damage - to date irreversible - is what causes the neurological system to break down.

While there are various forms of ALD, the most prevalent is the childhood cerebral form. In Lorenzo's Oil, actors Susan Sarandon and Nick Nolte portrayed the relentless efforts of Augusto and Michaela Odone to find treatments for their son, Lorenzo.

A Hopkins publication described the child as "a bright, exuberant 5-year-old who went into a sudden, shocking decline" as damage to myelin brought cognitive loss and left him unable to walk, see and hear. Lorenzo, who turned 28 in May, cannot see or walk but can hear, his father said.

The parents were often at odds with a medical community skeptical about the effectiveness of a treatment made from olive and rapeseed oils. The compound was patented by Augusto Odone and is considered experimental by the Food and Drug Administration.

Mr. Odone, 74, credited Dr. Moser with being more receptive than most physicians.

"Unlike other doctors, who did not believe in Lorenzo's Oil, Dr. Moser kept an open mind," Mr. Odone recalled yesterday from his home in Fairfax, Va.

He said that when Mrs. Odone died in 2000, Dr. Moser wrote a warm letter of condolence.

"He said let's make sure to work together and stay in touch, because that's what she would've wanted. It was a fantastic letter," said Mr. Odone, president of the Myelin Project, a foundation dedicated to fighting ALD.

Dr. Moser had published a study as recently as 2005, based on research with 84 boys treated at Kennedy Krieger, showing that Lorenzo's Oil can prevent onset of the disease's symptoms for the vast majority of boys who receive a diagnosis of ALD. The disease is passed from mothers to sons.

Dr. Goldstein said Dr. Moser believed he was on the verge of having a diagnostic test for ALD added to the blood tests routinely conducted on newborns nationwide. Dr. Moser's wife plans to continue that effort.

Physicians say the disease is wrenching to watch as seemingly normal boys, usually starting at age 4, lose hearing, speech, sight and motor skills. Within two years, those with the most severe cases are helpless and eventually die.

"The disease hits families like a ton of bricks," Dr. Moser was quoted as saying in a 2004 Hopkins publication.

When it strikes adults, the disease causes bladder and bowel problems and makes it difficult to walk.

"One of the problems is, it can have such variable manifestations of symptoms within the same family," said Dr. Gerald Raymond, a Hopkins neurologist who worked with Dr. Moser at the institute's Neurogenetics Research Center.

Throughout his years at Kennedy Krieger, Dr. Moser helped identify the biochemical abnormalities and genetic mutations that cause ALD and 14 related disorders.

Dr. Moser developed two tests that help clinicians diagnose ALD today - a blood test that he developed in the 1980s and a test developed about five years ago that measures the amount of myelin in boys' brains.

The tests are important because if the disease is found before symptoms appear, children can be treated before irreversible neurological damage occurs.

"He was one of the most charismatic people I've ever known, and he took a personal interest in all his patients," Dr. Raymond said.

Dr. Moser also is credited with working with the Myelin Project in establishing worldwide ALD counseling programs to evaluate methods of therapy, including diet, pharmacological agents and bone marrow transplants to boost the immune system.

He is also survived by daughters Tracey Schecht of Austin, Texas, Karen Levin of West Chester, Pa., and Lauren Moser of Bethesda; and four grandsons. A son, Peter Brigham Moser, died in 1992. An earlier marriage to Monti Lou Brigham ended in divorce.

A memorial service will be held at 11 a.m. Feb. 3 at First Baptist Church in Wakefield, Mass. Plans for a memorial service in Baltimore were incomplete yesterday.

jacques.kelly@baltsun.com  dennis.o'brien@baltsun.com

 

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