A few somewhat scattered thoughts before going to the operating room this morning. I got my New England Journal of Medicine in the mail yesterday, and it contained the stunning news of what appears to be a genuine gene therapy cure for children with severe combined immunodeficiency—the rare but devastating boy-in-the-bubble condition in which kids are born without a functioning immune system. This condition is caused by a single defective gene. Paris researchers found a way to get that vital gene back into the bone marrow cells of five afflicted children. And now, two and a half years later, according to their report, four of those children are leading normal lives with a complete ability to fight back infections and no need for medicines whatsoever. (In the fifth child, the procedure was, sadly, unsuccessful.)
There are lots of things that are interesting about this news. First, this is the first real proof that genetic therapy can really help mankind. There’s been lots of hype but until now no sustained results against any disease. So these findings are spectacularly heartening.
Second, the death of Jesse Gelsinger, whom you mentioned yesterday, in a gene-therapy experiment two years ago had cast a deep pall over work of this kind. His death had brought home the magnitude of the risk behind the experiments that were being done and raised questions about whether gene therapy could ever live up to its much-touted promise. It also, as you say, raised questions about the legitimacy of experimenting on kids. (He was 18, but just barely so.) The children in the Paris study were babies when they entered the experiment. Their families agreed to putting them in despite completely uncertain results, significant risks, and the existence of bone marrow transplants which can often control (though not cure) the disease. And yes, it is important to point out that an adult deciding to enter his or her child in an experiment is not nearly the same matter as an adult deciding to enter one him- or herself. But when all the committees have met and the regulations have been passed down, what else are we going do? If progress is to occur, then experiments on children must be done. And the news from Paris is wonderful evidence that genuine progress can occur.
The third and perhaps most interesting aspect of this news for us, though, is that you can’t talk about it. Am I right? I got the journal in the mail yesterday and have been e-mailing back and forth with friends ever since, chatting about the different studies reported. But somehow the rules require that you, a reporter, not write anything about the findings until tomorrow. I don’t know if this study will actually make the news tomorrow. But how exactly is it that the New England Journal keeps you and your paper from discussing the findings for 24 more hours? After all, the NEJM is the one journal that does NOT send out press releases that it can threaten to take away from you. Or do I have this wrong?
As for Botox, I think we’ll have to get back to that one. The only time I’ve ever considered using Botox, though, was last week for a patient, not with wrinkles, but instead with—I kid you not—an anal sphincter that was too tight. Seems to relax things like a charm. Not exactly breakfast table conversation, though.