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New Hope For Patients Living With Cystic Fibrosis After Scientists Unveil Therapy


New hope this week for tens of thousands of patients living with cystic fibrosis. Scientists have unveiled a promising therapy - a combination of three drugs that target a genetic mutation that causes cystic fibrosis, which affects the lungs and can cause respiratory failure. This new therapy could benefit 90% of patients with the disease.

Dr. Francis Collins is director of the National Institutes of Health, and he's one of the scientists who discovered the gene defect behind cystic fibrosis 30 years ago.

Dr. Collins, welcome.

FRANCIS COLLINS: Thank you. Great to be with you.

KELLY: So I saw that you wrote in a blog post you are overjoyed. Just tell me how it feels to be able to announce this.

COLLINS: Oh, wow, Mary Louise, it has been 30 years that we've been hoping and dreaming for a day like this, where you could look at data and just absolutely - your jaw drops because it is so impressive and so good. Now we are at the point with this triple therapy where 90% of people with cystic fibrosis are going to have substantial and amazing benefit from the drug therapy that looks as if it will convert what has been otherwise a very threatening and potentially fatal disease into a chronic illness that's going to require treatment but which should allow people to live much more normal lives. And waiting 30 years and having this happen, yeah, I'm overjoyed.

KELLY: Yeah. And when you say convert this to more of a chronic disease that can be managed, that sounds similar to, I don't know, more like diabetes or something. Is that the way you're thinking about it?

COLLINS: I think this is more in a place where you could say this is becoming a manageable chronic disease like diabetes or like arthritis where you know you're still going to need that treatment. These drugs will need to be taken, but they have this remarkable ability to correct the protein that's not doing its job, which is the problem in cystic fibrosis that we discovered 30 years ago.

KELLY: Right. And I understand that part of what's so critical here is that this drug therapy targets the genetic root of the disease, not just treating the symptoms. Is that right?

COLLINS: That's absolutely right. The drug therapy is designed to specifically encourage this protein that is misspelled and is folded improperly, to get its folding correct and to get itself to the right location in the cell, and then gives it a little kick to get it to activate its functions. And I think a lot of people thought that was going to be almost impossible to compensate for. But here we are.

KELLY: There's a line from the Washington Post story about this that I was just reading that I'm going to read in full because I found it so moving. Patients who were unsure about whether they should bother attending college because they'd always known they would die young are now being told they should think about planning for retirement.


KELLY: it's amazing.

COLLINS: It is amazing. You might have thought people would have after a while just said, oh, heck, it's not going to work. Nobody ever said that. For 30 years this journey has been pursued by thousands of scientists from all sorts of different perspectives. And all of us gathered right now in Nashville, Tenn. are having a pretty big celebration.

KELLY: As we mentioned, this new drug therapy could benefit 90% of people with cystic fibrosis. What about the other 10?

COLLINS: We must not abandon the 10% of people for whom these drugs will not provide benefit. And everybody who is working on cystic fibrosis is 100% behind that sentiment. And the good news is there is now a lot of momentum to get to that place as well and ultimately to develop not just a drug therapy, but a cure.

KELLY: One more practical question, which is - this therapy is super expensive. A year's treatment is going to cost more than $300,000. Will patients have access to it now that it exists?

COLLINS: The cost is very high. I know the Cystic Fibrosis Foundation, which has been such an amazing supporter of patient needs, is going to be working very hard to be sure that no patient who needs access to this treatment is going to be deprived because of financial reasons. And I think the company will also try to work on that. The price tag is a little breathtaking, but something will need to be done to be sure that nobody misses the chance for a new life with this opportunity in front of them.

KELLY: I can hear the joy in your voice as you're discussing this. And...

COLLINS: (Laughter) I can't help it.

KELLY: Yeah. I am told that after you first identified the cystic fibrosis gene, you wrote a song.

COLLINS: I did. We sang it this morning, actually.

KELLY: Would you share a tiny bit with us?

COLLINS: Sure. So the song is called "Dare To Dream." And I wrote it at a time where, yes, we understood what the DNA misspelling was, but we were a long way from knowing how that could help people therapeutically. And the chorus is dare to dream, all our brothers and sisters breathing free.


COLLINS: (Singing) All our brothers and sisters breathing free. Unafraid, our hope's unswayed (ph) until the story of CF is history. Do that one more time.

And we sang that this morning here in Nashville at the major cystic fibrosis meeting. And I had a borrowed guitar and stood up in front of 5,000 people and put the chorus up on the screen. And they stood up, and they sang their hearts out. And it was hard to keep going and not just get choked up. It was a moment.


COLLINS: (Singing) Let's turn the story of CF into history.

KELLY: What a moment. That is NIH Director Dr. Francis Collins talking about this new therapy, a combination of three drugs that could help up to 90% of people currently living with cystic fibrosis.

Dr. Collins, thank you very much.

COLLINS: You're welcome. Transcript provided by NPR, Copyright NPR.

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