"For the first time doctors have used gene therapy to stave off a fatal degenerative brain disease an achievement that some experts had thought impossible. The key to making the therapy work One of medicines greatest villains HIV. The patients were children who had inherited a mutated gene causing a rare disorder adrenoleukodystrophy http or ALD. Nerve cells in the brain die and in a few short years children lose the ability to walk or talk. They become unable to eat without a feeding tube to see hear or think. They usually die within five years of diagnosis. The disease strikes about one in  boys symptoms first occur at an average age of . The only treatment is a bonemarrow transplant  if a compatible donor can be found  or a transplant with cord blood if it was saved at birth. But such transplants are an onerous and dangerous therapy with a mortality rate as high as  percent. Some who survive are left with lifelong disabilities. Now a new study http published online in the New England Journal of Medicine indicates that gene therapy can hold off ALD without side effects but only if it is begun when the only signs of deterioration are changes in brain scans. The study involved  boys the disease strikes males almost exclusively ages  to . All got gene therapy. Two years later  were functioning normally without obvious symptoms. To me it seems to be working said Dr. Jim Wilson director of the gene therapy program at the University of Pennsylvanias Perelman School of Medicine who was not involved in the new study. One of the remaining two boys died his disease progressed so rapidly that gene therapy could not stop it. The other withdrew from the study in order to have a bonemarrow transplant. He died of complications from the procedure. When Amber Salzman an executive at GlaxoSmithKline learned that two nephews and her son had ALD she pushed researchers to look to gene therapy for a cure. She met with resistance.CreditSandy Huffaker for The New York Times The study opens new avenues for using gene therapy to treat brain diseases said Dr. Theodore Friedmann a gene therapy pioneer at the University of California San Diego School of Medicine. Many think the central nervous system is intractable and unapproachable he said. This study proves them wrong. The research began with a determined mother Amber Salzman who was an executive with a Ph.D. in mathematics at GlaxoSmithKline. In  her nephew was diagnosed with ALD a disease she had heard of only in the movie Lorenzos Oil http He was this wonderful sweet brilliant kid Dr. Salzman said. All of a sudden he loses his abilities. He crumbles in front of your eyes. She had her oneyearold son tested and found that he had the mutated gene as did another nephew. She looked into Lorenzos oil a difficult dietary regimen featuring a specially designed oil. Statisticians at her company told her studies of it did not show any effect. Dr. Salzman met with Dr. Tachi Yamada who was head of research and development at Glaxo. I said It will be a few years before the bomb goes off in my son and other nephew. What do we do Dr. Yamada told her that her best bet was gene therapy but it had never been tried against a disease like ALD.  Indeed gene therapy had recently fallen out of favor after yearold Jesse Gelsinger died  http an experimental treatment. Then in  four of nine children who got gene therapy for an immunodeficiency disease https developed leukemia. Dr. Salzman with assistance from her sister Rachel and from other scientists was undeterred. She corralled researchers worldwide asking why a different sort of virus couldnt be used to slip a good ALD gene into the boys cells. The best choice it turned out was a disabled form of HIV which can insert genes into human cells more safely than other viral carriers. From left Brian Paul and Brandon Rojas. While Brian shows no sign of ALD Brandon now  no longer speaks walks or eats. He has a feeding tube.CreditMisha Friedman for The New York Times Scientists were understandably wary. Disabled AIDS viruses had not been used in human gene therapy. But I dont take no for an answer Dr. Salzman said. I probably come just shy of stalking people. The result of her lobbying was a tiny study httpscience.sciencemag.orgcontent in France in which researchers used a disabled form of HIV to deliver a normal form of the ALD gene. The investigators reported that the treatment seemed to stop brain degeneration in two boys. Yet the idea behind the treatment seems almost preposterous Take bone marrow stem cells from a boy with the ALD gene mutation. Insert a good gene into those cells and then infuse them back into the bone marrow. Wait about a year while stem cells with the good genes multiply in the bone marrow. Eventually they drift up into the brain where they slowly turn into glial cells  support cells that surround neurons and help insulate them. The proper gene in the glial cells takes over stopping the brain deterioration that would otherwise occur. That unlikely process also explains why bone marrow transplants work said David A. Williams chief scientific officer at Boston Childrens Hospital and a principal investigator for the study. New bone marrow cells from a healthy donor supply good ALD genes to cells in the recipient that eventually become glial cells. Either therapy must be administered early before symptoms are apparent. In the year it takes for the treatment to become effective the brains of children who are already showing symptoms can deteriorate to the point of no return. The success of the small pilot study was enough to inspire the founding of a company Bluebird Bio which sponsored the bigger study in hopes of marketing gene therapy for ALD. The company has now expanded that study to include an additional eight boys and in separate research is following boys who had bone marrow transplants to compare outcomes. For Paul Rojas of Dover Plains N.Y. whose son was in the study gene therapy has been a lifesaver. He never heard of the disease until his son Brandon who was  started drooling losing his ability to concentrate and listing to one side when he walked. Brandon was  when he was found to have ALD. Brian misses playing with his brother his father said. Brandon was his idol.CreditMisha Friedman for The New York Times The diagnosis was a shock. And since Brandon was showing symptoms it was too late for a bonemarrow transplant. Brandons doctors Mr. Rojas said sat across from him and his wife Liliana in a small conference room and gave them the bad news This is a disease that has no cure. He had his yearold Brian tested. He had the mutated gene too. The Rojases could not find a compatible donor for a bonemarrow transplant. But then they learned about the gene therapy trial and got Brian enrolled. He is now  with no sign of the disease. But his older brother Brandon now  no longer speaks walks or eats. He has a feeding tube. Brian misses playing with his brother Mr. Rojas said. Brandon was his idol. For Dr. Salzman the results of the new gene therapy study have come too late. She had to get treatment for her son before he developed symptoms. He had a cord blood transplant which was successful. Her nephew also had one but suffered complications and must use a wheelchair. The results of the new study also give rise to a concern that is becoming a regular feature of gene therapy work and other new biotech therapies How much will this treatment cost Bluebird Bio is not saying  companies generally do not announce prices until their drugs are approved. Dr. David A. Williams chief scientific officer at Boston Childrens Hospital and a principal investigator of the new study expects the price to be similar to the hundreds of thousands of dollars it costs for a bonemarrow transplant. But the new treatment is a curative therapy he said. Dr. Friedmann is not assuaged by such arguments. The research enabling these products to come to market often begins with studies already paid for by grants from the federal government or from private foundations. The expected prices he said are absolutely crazy."