There is a rare but devastating genetic disorder that affects boys almost exclusively. It's called adrenoleukodystrophy (ALD), and its symptoms first appear around age 7. The prognosis is poor, and most patients don't make it to their teens.
ALD in children is merciless. “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 New York Times reported.
According to NPR, most boys with the disorder are diagnosed too late for an effective treatment, which, in this case, is a bone marrow transplant. The procedure replaces a patient's damaged bone marrow with healthy marrow from a donor. Bone marrow transplants are complex and expensive, and they carry a significant risk for serious complications, according to the U.K. National Health Service. Moreover, it cannot be done if the ALD patient is already showing symptoms.
Amber Salzman saw firsthand what ALD does when her nephew was diagnosed in 2000. So she had her 1-year-old son tested for ALD. The test came back and found he had the mutated gene that caused ALD. Then another nephew was also diagnosed. It was shattering news for any parent, but Amber, who was an executive with a Ph.D. in mathematics at GlaxoSmithKline, was determined not to let her son deteriorate without a fight.
Amber went to Dr. Tachi Yamada, who was head of research and development at the pharmaceutical company and told him, “It will be a few years before the bomb goes off in my son and another nephew. What do we do?” Gene therapy may be the answer, Dr. Yamada replied, according to The New York Times (NYT).
Gene therapy remains a tricky territory, one that scientists tend to be wary of after experimental treatments have led to complications. According to the NYT report, "four of nine children who got gene therapy for an immunodeficiency disease developed leukemia in 2003."
Amber approached researchers all over the world, and her efforts led to a small study in France. Researchers used a "disabled form" of the human immunodeficiency virus (HIV), the same one that leads to AIDS, to transport a normal form of the ALD gene in a body's cells. The hope was the process would slowly replace the mutated genes in the patients and stop the brain degeneration. The study reported it seemed to work in two boys.
It takes a year for the normal genes to multiply, reach the brain and stop brain degeneration in patients with ALD. So researchers believe this gene therapy will work when it is administered before symptoms are apparent.
Recently, a new study, published in the New England Journal of Medicine, has also found that “gene therapy may be a safe and effective alternative to allogeneic stem-cell transplantation [a.k.a. bone marrow transplants] in boys with early-stage cerebral adrenoleukodystrophy.”
A total of 17 boys, ages 4 to 13, participated in the study. One of the boys withdrew to undergo a bone marrow transplant, which led to his death due to complications. The other’s ALD progressed much too rapidly and also passed away.
But, for the rest, the results were promising. “Fifteen of the 17 patients (88%) were alive and free of major functional disability, with minimal clinical symptoms,” said the study.
This may very well be the light at the end of a long tunnel for ALD. A commenter on The New York Times article put it perfectly when he said, “it is amazing to me that such a devastating disease [HIV] can be re-purposed to save a life.” And a lot of it is thanks to one determined mom.