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In the third gene therapy success of recent weeks, French researchers have arrested the progression of the rare and fatal degenerative disorder adrenoleukodystrophy, which was at the heart of the 1992 movie "Lorenzo's Oil." The disease has stabilized in two boys who were 7 when the therapy was performed two years ago, the team is reporting today in the journal Science.
"This is a disease that never, ever stabilizes" on its own, said Dr. Katherine High of the Children's Hospital of Philadelphia, who was not involved in the research. "The fact that they were able to achieve that means they are getting a therapeutic effect."
This is the fifth disease for which gene therapy has been shown beneficial, added the University of California, San Deigo's Dr. Theodore Friedmann, who was also not involved. "That's a major achievement for a field that has been in the clinic for only 18 or 19 years. ... This is a new form of medicine and deserves to be seen as such."
The French team has treated a third boy with the disease, though results are not yet available, and plans to expand the trial to others, including older men with a milder form of the disease.
Adrenoleukodystrophy, commonly called ALD, is identified in about 120 young boys in the U.S. each year. Those born with the defective ALD gene seem normal until about age 5, "when a really catastrophic process of progressive, relentless demyelination (of the brain) sets in that leaves them vegetative or dead within one to two years," said Dr. Florian Eichler of Massachusetts General Hospital, an expert in the disease. "This is as bad as neurological disorders get."
If the disorder is identified before brain deterioration begins, the concoction known as Lorenzo's oil - a mixture of fats from olive and rapeseed oils that purportedly reduce abnormally high levels of damaging long-chain fatty acids in the brain - can delay progress somewhat.
Once deterioration begins, however, the only option has been a bone marrow transplant. For those few lucky enough to have a closely matched sibling, that can arrest progression. A transplant from a less closely matched donor can help, but can also have severe side effects, leaving some patients in a wheelchair.
The new research was done by a team headed by Dr. Nathalie Cartier and Dr. Patrick Auberg of University Paris-Descartes, who have been involved in previous successful studies of severe combined immunodeficiency disease.
The team documented success in a variety of ways, and was also able to demonstrate that the procedure is safe.
In the last two weeks, researchers have reported using gene therapy to treat an eye disease called Leber's congenital amaurosis, and to rejuvenate human lungs that would otherwise be unfit for transplant - although treated lungs have not yet been placed into humans. Two forms of SCID had previously been cured.
Gene therapy, Friedmann said, "has crossed a threshold, scientifically and medically, and also in credibility."
