Leber’s congenital amaurosis. Say that five times fast. Or try this one: adrenoleukodystrophy. If you’re a movie fan, you might be able the manage the second one: It was the disease in the movie Lorenzo’s Oil. These are among the diseases for which gene therapy has recently shown progress, according to a story by Gina Kolata in today’s New York Times.

Kolata begins her story this way: “Not long ago, gene therapy seemed troubled by insurmountable difficulties. After decades of dashed hopes, many who once embraced the idea of correcting genetic disorders by givine people new genes all but gave up the idea.”

That’s a nice historical tidbit, but I’d rather she had started with the news, which she doesn’t get to until the eighth graf. There she reports that researchers have successfully treated two children with adrenoleukodystrophy, or ALD. The children were not cured, but their disease–in which nerve cell insulation deteriorates, leading to brain damage and death–was arrested. It comes from a report in this week’s Science magazine.

Not sure why she structured the story that way. Granted, the name of the disease is a mouthful, but Thomas H. Maugh II of the Los Angeles Times had no problem putting the news in the lede. “In the third gene-therapy success of recent weeks,” he writes, “French researchers have arrested the progression of the rare and fatal degenerative disorder adrenoleukodystrophy, which was at the heart of the popular movie ‘Lorenzo’s Oil.’”

Both reporters say this is the third success in recent weeks, but they each counted different diseases. Kolata mentions previous successful treatments of Leber’s congenital amaurosis, an eye disease, and a “rare immunological disorder,” which I couldn’t find identified in the print version of the story (apologies if I missed it). A link on the web pointed to a scientific paper on severe combined immunodeficiency, or SCID.

Maugh, who likewise called this the third recent success, mentions three others, which would make this the fourth: the eye disease, SCID, and gene therapy to rejuvenate human lungs before transplantation. I was delighted to see that Maugh apparently got room in the paper to write this story; the last few times I’ve mentioned his work, it’s been in blog items, not in the paper.

Neither of them, however, mentioned a salient fact that could have been shoe-horned into the lede, or maybe tucked in the second graf: The researchers used a modified version of the AIDS virus (HIV) to treat these kids. That’s a nice example of turning an enemy to our advantage, and neither of them highlighted it.

Tom Avril at The Philadelphia Inquirer does a local take on the research, focusing on two sisters who started the Stop ALD Foundation, and who happen to live up the Main Line from Philadelphia. The two of them arranged a meeting between a researcher studying ALD and one developing HIV as a tool for gene therapy. It’s a nice approach, but I felt a little adrift in the early paragraphs. We hear about a busy scientist on an airplane; Amber Salzman, a distressed parent; and a researcher in France. Then we’re told that their interactions led to the research published today. And only then do we get fuller identifications on these folks.

For me, it was a little top heavy; I had a bit of trouble keeping the characters straight until I knew who they were and how they fit into the story. Nevertheless, once I got my footing, I found it an interesting tale of how activist parents can encourage research and even help set research agendas.

Others:

Lauran Neergaard of the Associated Press gets HIV in the lede: “French scientists mixed gene therapy and bone marrow transplants in two boys to seemingly halt a brain disease that can kill by adolescence. The surprise ingredient: They disabled the HIV virus so it couldn’t cause AIDS, and then used it to carry in the healthy new gene.” I like that, although I was slightly confused about the mixing of gene therapy and bone-marrow transplants until I read Neergaard’s explanation further down.

AFP: A breakthrough mix of stem cell and gene therapy halted a lethal brain-wasting illness in two young boys, and could prove effective against other genetic disorders, researchers reported Thursday.

From the NPR website, with an accompanying audio story by Joe Palca: Researchers in France have successfully treated two young boys with a rare but fatal genetic disease. This marks a high point for the field of gene therapy after several well-publicized setbacks.

Brandon Keim at Wired: Scientists have used gene therapy to halt the progression of adrenoleukodystrophy, a fatal neurodegenerative disease caused by a single defective gene, in two seven-year-old boys.

Grist for the Mill: The Science press release; Stop ALD Foundation’s press release.

- Paul Raeburn

This entry was posted on Friday, November 6th, 2009 at 4:09 pm and is filed under Health & Medicine Stories. You can follow any responses to this entry through the RSS 2.0 feed. You can leave a response, or trackback from your own site.