NOEL KING, HOST:
There's new hope for people who have the blood-clotting disorder hemophilia. Gene therapy seems to be working for patients, but the cost of it is raising some tough questions. Here's NPR health correspondent Rob Stein.
ROB STEIN, BYLINE: Jack Grehan was born with hemophilia, so doing something as simple as just walking down the street could cause big problems for his ankles.
JACK GREHAN: I was always get in these bleeds in the ankles, so walking around was becoming more and more troublesome.
STEIN: Because people with hemophilia are missing a crucial protein that blood needs to clot, so just walking can cause dangerous bleeding in their joints that eventually can be crippling.
GREHAN: It's the microbleeds that just sort of way you down - not even physically, but mentally - you know, having to just stop and rest and ice an ankle that you feel is bleeding, just having to pause your life sort of every day.
STEIN: And Grehan, who's 26 and lives in Billinge, England, knew that hemophilia can cause even more serious, even possibly fatal, complications if the bleeding happens in the brain or other parts of the body.
GREHAN: Internally, there could have been a lot worse situations. But, you know, I consider myself quite lucky in that respect.
STEIN: Because before anything terrible happened to Grehan, he heard that doctors were testing a new way to treat hemophilia - a new kind of gene therapy that would actually fix the genetic defect that causes hemophilia.
GREHAN: When I first heard about the trial, I thought it was unbelievable that we're in this situation, that this even existed.
STEIN: So he jumped at the chance to volunteer. Doctors infused trillions of harmless viruses that had been genetically engineered to carry a healthy gene into his liver. And it worked. Within a couple of weeks, he could stop injecting himself with the clotting protein he had needed every couple of days his entire life.
GREHAN: It's been absolutely brilliant and life-changing for me. I can just go about my day and not have to worry.
STEIN: And gene therapy appears to be working for other people with hemophilia, too.
JOHN PASI: Not to have to worry about hemophilia any longer, I think it's, essentially, transformational for many patients.
STEIN: John Pasi of the Royal London Hospital ran the study Grehan was in. He says the treatment dramatically cut bleeding in all 13 patients who got the same gene therapy Grehan got. They all had the most severe form of the most common form of hemophilia.
PASI: I think it's amazing data, actually. It's been the Holy Grail for years to be able to treat hemophilia with a gene therapy treatment. And maybe we're beginning to see that that wasn't a pipe dream and that this is a realistic option.
STEIN: It's the latest promising development for gene therapy, which has finally started producing effective treatments for a variety of diseases after decades of setbacks. In fact, the company developing the gene therapy Grehan got says nearly 150 patients have now been treated, and the results are so encouraging that the company's asking for approval in Europe and the United States.
JEFF AJER: It is such a major advance.
STEIN: Jeff Ajer is an executive vice president at the California company called BioMarin.
AJER: When I was, you know, a young man working in this industry, we talked about gene therapies. It felt like science fiction at the time. And to be standing here all these years later, to have these huge benefits to patients' lives, is very exciting.
STEIN: Now, there are lots of questions about this. One big one is - will the gene therapy keep working or will it eventually wear off? And if it gets approved, BioMarin says this gene therapy for hemophilia won't come cheap. The company says it could cost as much as $3 million per patient, and that would make it the most expensive drug ever.
PETER BACH: It's just outrageous.
STEIN: That's Peter Bach. He studies drug prices at Memorial Sloan Kettering in New York. He says the price tag on each of these new gene therapies just keeps getting higher and higher.
BACH: A clinical breakthrough is prodigious. We should be thrilled by it. But the greatest innovation in the pharmaceutical industry is not the biologic breakthroughs they're making; it's their ability to extract money from society that we could put into other things, like better benefits in Medicare, lower out-of-pocket costs for poor people, dental coverage and things like that.
STEIN: Drug company officials defend the price. It can cost hundreds of thousands of dollars a year to treat hemophilia and millions over a lifetime. This will hopefully be a one-time treatment that lasts a lifetime. So, Ajer says, it could actually save tens of millions of dollars in the long run.
AJER: It's likely that our gene therapy would save a lot of money - millions, perhaps many millions.
STEIN: Ajer says the company is working to make sure the treatment would be available to any patients who need it. The company is already negotiating with insurance companies and government programs to pay for it. For his part, Grehan also thinks the price is reasonable.
GREHAN: I think $3 million for this is very cheap because it is life-changing. And if you're going to spend hundreds of thousands of dollars a year over a lifetime, that seems worth it to me.
STEIN: Other gene therapies are also showing promise for hemophilia, and the Food and Drug Administration will decide whether to approve this first one by the end of the summer.
Rob Stein, NPR News.
(SOUNDBITE OF MUSIC)
NPR transcripts are created on a rush deadline by Verb8tm, Inc., an NPR contractor, and produced using a proprietary transcription process developed with NPR. This text may not be in its final form and may be updated or revised in the future. Accuracy and availability may vary. The authoritative record of NPR’s programming is the audio record.