Gene therapy aids boys with Lorenzo’s Oil disease

The fledgling field of gene therapy has scored another win: An experimental treatment seemed to help boys with the inherited nerve disease featured in the movie Lorenzo’s Oil.

Fifteen of the 17 boys treated in a study had no major disability two years later — remarkable for a disease that often causes swift decline and kills within a decade.

“This appears to be a terrific new therapy” for many kids who had little hope before, said one study leader, Dr. David A. Williams of Boston Children’s Hospital.

The news is bittersweet for Paul and Liliana Rojas, a couple with two sons who have the disease. Seven-year-old Brian received the treatment; Brandon, 10, didn’t.

Brandon was too far along in his disease to qualify for the study, his father said: “Brian was not. Thanks to Brandon he was diagnosed early,” in time to be helped.

Results were published recently by the New England Journal of Medicine and discussed at a medical conference in Kansas City, Mo. Government grants and the therapy’s maker — Bluebird Bio Inc. — paid for the study.

Only one gene therapy is sold in the U.S., a leukemia treatment approved in August. Only a few are sold elsewhere. Researchers increasingly are trying these approaches for diseases caused by a single gene, as this one is.

Called adrenoleukodystrophy, it almost exclusively strikes boys, who have only one copy of the X chromosome, where the gene that causes the disease lies. It affects about one in every 20,000 boys worldwide. They are unable to make a protein that helps break down certain fatty acids, causing the acids to build up and damage nerves, muscles and the brain.

Their plight became better known after the 1992 movie about a couple who, desperate for a cure for their son, developed a treatment from olive and rapeseed oils that seemed to help him. The real-life Lorenzo died in 2008 at age 30, having lived two decades longer than doctors predicted.

Lorenzo’s oil did not turn out to be a cure. The only effective treatment is a stem cell transplant from a matched sibling, but only about one in five boys with the disease have such a donor.

The gene therapy tested a way for boys to serve as their own cell donors.