Short Wave - That Revolutionary Gene-Editing Experiment? So Far So Good.

Episode Date: November 20, 2019

Earlier this month NPR health correspondent Rob Stein introduced us to Victoria Gray, the woman at the center of a groundbreaking medical treatment using CRISPR, the gene-editing technique. This week, Rob reports exclusively for NPR on the first results of that closely-watched experiment. Follow host Maddie Sofia on Twitter @maddie_sofia. Email the show at [e-mail]. See pcm.adswizz.com for information about our collection and use of personal data for sponsorship and to manage your podcast sponsorship preferences.NPR Privacy Policy

You're listening to Shortwave from NPR. Maddie Safaya here with NPR health correspondent, Rob Stein. Rob, are you excited? I am so excited. Okay, so here's the deal. This episode reveals the early first results of a groundbreaking medical experiment to treat a woman named Victoria Gray. Rob has been reporting on Victoria's journey exclusively for NPR, and everything you're about to hear makes a lot more sense if you hear our first episode about Victoria

from November 4th. So if you miss that, go back and listen. But Rob, for all the people, most of the people, who are too impatient to go back to November 4th, set this up for me. Okay. We're talking about Victoria Gray. She's 34. She lives in Mississippi, and she has four kids, and she has sickle cell disease. And that's an awful genetic condition where your red blood cells, you know, the ones that carry oxygen. Instead of being, you know, squishy and normal and healthy, they're sticky and misshaping in the sickle-shaped. and it causes terrible pain. And people with sickle cell, they often don't make it past their 40s. It's a huge problem, something like 100,000 Americans of sickle cell and millions of people around the globe.

That's right. It's a terrible problem. But earlier this year, as part of this new medical experiment you were talking about, scientists tried something completely new and kind of amazing with Victoria that had never been done with a sickle cell patient before. They removed some cells from Victoria's body from her bone marrow. they modified a gene in those cells. They literally rewrote them at the molecular level, and then they infused billions of these edited cells, genetically edited cells back into Victoria's body,

hoping that they would, in essence, create new, healthy red blood cells for her. Right, and in our last episode, we explained that this is done using a gene editing technique called CRISPR. Exactly, CRISPR, and my neighbor told me even as fish understood what we were talking about. We explained it flawlessly. Glob, glub got it.

So scientists, patients, journalists, anybody paying attention to this clinical trial have been waiting since this summer to see if Victoria is getting healthier. And this week, they revealed some results. Rob, you've been sneaking around for weeks, not making eye contact with me. Yeah. And it's time to spill it. You know, Maddie, I trust you, but I don't trust you that much. Okay, this is the news. It seems like it actually is working.

And it may even be working better than they initially hoped it would be. So this episode, how it's working, the science behind the success, at least the early success, of one of the most exciting medical experiments in decades. Okay, Rob, as we mentioned in our last episode, you've been following Victoria Gray, the woman at the center of this experiment since the beginning. Yeah, that's right. And I met up with her most recently in a parking garage in Nashville. Hi, Victoria.

Hi. How are you doing? It's so good to see you. Yeah, it's good to see y'all, too. Yeah, Victoria had just driven back to Nashville after spending some time at home with her family in Forest, Mississippi for the first time in months. It's been a while. Yeah, it's been a while. So it's an exciting day for you, huh?

Yes, it is. How are you feeling? I feel good. I'm hoping to get some good news today. Good news from her doctor about whether the billions of genetically modified cells that were infused into her body might just might be helping her fight sickle cell disease, which is tormented her all her life. Are you nervous at all? No, I'm not. No. Just about the needles.

Victoria's going to have to get a ton of blood test today. TriStar Medical Group Children Specialist. This is Lisa. How can I help you? She checks in at the TriStar Centennial Medical Center in Nashville. Yes, Victoria, great for Dr. Frangoo. Could you go ahead and sign in for me? Okay. And as we're waiting, I noticed something.

Victoria's wearing a black sweatshirt with big letters on the front that spell the word warrior. I like that. I like your sweatshirt. Thank you. Yeah, you know, they call Sickle Cell Patient Warriors and stuff, so I saw it at Walmart, and I said, oh, that's for me. I did not know they called Secret Cell Patients Warriors. Yes, because it's a constant battle.

You have to be to deal with it. Okay, Rob, just give us a refresher on sickle cell. Yeah, so sickle cell is this, it's a really cruel genetic disorder, and it deforms red blood cells into defective sickle-shaped cells. So basically, instead of looking circular, they look like little half moons. Right, right. And they jam up or blood cells. bloodstream and they really wreak havoc in her body.

They cause these sudden attacks of pain that some people say it's the worst pain imaginable. I had moments where I was standing, laughing, talking with friends, and then the next thing you know, my husband had to carry me into the murderousy room because I couldn't use my legs because they were hurt so bad. And when you can't help yourself, it's just one of those feelings that just make you want to give up, you know. It just sounds unbelievably awful. Yes, it is.

I can't even imagine. Yeah, it's really horrible. And that's the kind of pain that scientists are hoping, or we're hoping, that could ease or even maybe eliminate from Victoria's life with this treatment. You can go on back now. Victoria, she finds an empty chair. She sits down and she stretches at her arm for the nurses. All right, so you're going to fill a stick on three, okay?

One, two, three, stick. Oh. All right. So you should be good. There's those needles, Rob. Yeah, so they had to take a lot of blood. And as we were waiting there, I asked Victoria about her homecoming a few weeks earlier

when she got to see her four kids for the first time since she spent the summer in Nashville getting treated and recovering from what was a really grueling procedure. My oldest son, when he did his double-take and realized I was in the car, he took off running, and he just grabbed me and held on to me. Yeah, and the twins saw me from inside the house. My mama said that my daughter was...

My mom, I saw how she was just jumping. They knew it was mama. It was been amazing. Yes, it's emotional for me, you know, because I love them so much. I did this for them. Yeah, so it's worth it. I forgot she surprised them when she went home. Yeah, she did.

It was just big surprise. It was amazing kind of homecoming and reunion. And then the nurses are finally done after filling 16 vials with blood. Okay. All finished. She did great. So Victoria, she heads over to see her doctor. How are you? How are you? You're doing all right. Doing good, doctor.

Dr. Haider-Frangul is with the Sarah Cannon Research Institute. Okay, great. Let's check you out. Take it. Deep breath for me. Deep breath. Good job. Well, you look amazing, Victoria. You look really good. After finishing his exam, Dr. Frank Gould finally shows Victoria what she's been waiting for, the results of some.

for blood tests. So look at this. This is very exciting. Are you excited about it? Yes, I am. Okay. I am super excited about your results today. So Victoria's genetically modified cells have started doing what they're supposed to be doing. Amazing. It looks like there are signs that you are starting to make fetal hemoglobin, which is very exciting for us. Okay, fetal hemoglobin. Yeah, fetal hemoglobin. You ready for a little science pause? Oh, yeah. To talk about hemoglobin? Let's do it. Hemoglobin is a protein in your blood. It's the protein that carries oxygen.

When your fetus in the womb or even very young babies, they make something called fetal hemoglobin. Fetal hemoglobin is my favorite type of hemoglobin. Of course. Yeah. It's everybody's favorite. Because it's so good at grabbing oxygen, like better than adult hemoglobin. Like so much better than when a fetus is in the womb, its fetal hemoglobin actually pulls oxygen from the mother's hemoglobin. Yeah, yeah.

That's how a fetus gets the oxygen. it needs in the womb. Pretty cool. It steals it, Rob. It steals it from my. You know, when you're in the womb, you got to do what you got to do. Yes, you got to do what you got to do. Go on.

But once a baby is born, after a few months, there's a genetic switch that literally tells the bone marrow cells, those cells that produce red blood cells, to stop making fetal hemoglobin. You don't eat it anymore. And for most people with sickle cell disease like Victoria, that's where the problem starts. Instead of producing healthy adult hemoglobin, they are producing this defective sickle cell hemoglobin. Right. And so what doctors are doing for Victoria and are hoping to do for other patients is use CRISPR to make her cells make fetal hemoglobin again. Exactly. Basically, they're turning off the off switch. You know, it's kind of a double negative, but really what they're doing is they're turning the production of fetal hemoglobin back on. And one of the reasons that doctors think this is going to work is pretty cool, right?

it's because it's very similar to something that's already happening inside the bodies of some people with sickle cell disease. Yeah, there's this really interesting backstory behind all this. There are these rare people who are born with the genetic defect that causes sickle cell, so they should be really sick, but they're not. Their symptoms aren't nearly as bad as you would think they would be. And why would that be? Well, it turns out the reason is their bodies never stopped making fetal hemoglobin. And the fetal hemoglobin is essentially,

allowing them to live pretty much normal lives. They don't have many of those horrible complications that have plagued Victoria all her life. So that fetal hemoglobin kind of compensates for the messed-up sickle cell hemoglobin. That's right. So the hope is if Victoria's body starts making fetal hemoglobin again, she won't have as many of those terrible symptoms either, just like the people whose bodies do it naturally. So she won't be, quote, cured, unquote, but she may be way, way, way better. And so far it looks good, right? Yes, the edited cells are already pumping out way more fetal hemoglobin the doctors had hoped for. Nearly half the hemoglobin in her blood is fetal hemoglobin.

And I talked to Dr. Frank Gould, her doctor, and he said it's still rising. Amazing. And you haven't been in the hospital since I lost saw you, correct? No. No emergency rooms, no hospitals. No. How about that? That's good. Excellent.

Perfect. And so is that because of the procedure, because of the cells? Well, we are hoping it is. Again, it is too early to figure it out. but this is extremely encouraging. We are very happy, so this is really good. And is that unusual? Would you have expected to usually have a pain episode in this period?

Of course. Like with the time that passed by, I would at least have had something, you know. Wow, that sounds amazing. Yeah, it is for me. It's special, especially coming up on the holidays, because sometimes I would be in the hospital on Christmas. So I'm looking forward to something different. Yeah, so this could make a huge difference for Victoria.

And, you know, the same treatment also seems like it may be helping another patient who got it in Germany for a related blood disorder that's called beta thalassemia. Cool. But the thing is here, doctors are going to have to follow that patient and Victoria and a lot more patients to really answer the big questions. You know, are these gene edited cells going to continue to help them? Right. Will they keep working in the long term? Will they actually help people live longer? And will they be safe in the long term?

There's always a big question about side effects way down the road. So it's like it's very exciting, but let's like not get too excited quite yet. Right. This would be life-changing, not only for Victoria, but for many sickle cell patients. Because if this trial is to dormant to be safe and effective, I think it can be transformative for patients with sickle cell disease. And, you know, Victoria, she's already been able to do things that she could never do before. Like the big thing she did is she got to go see one of her sons play football for the very

first time. Yes, you know, the simple things in life. I don't really want anything extravagant. I just want a simple life with my family and the people that I love and the people that love me and just live, you know. This can be the beginning or something special. I like her, Rob. Oh, yeah.

I know. Victoria's great. And, you know, it's so great to see her get this good news. Yeah. All right, Rob Stein. Thank you for the story. I can't wait until our next update about Victoria. Yep.

Well, you'll be the first to know. Well, maybe the second. Well, third. I don't know. Barely. Top 10 maybe, Rob. I'll have to check my list. This episode was produced by Brent Bachman and edited by Viet Le.

I'm Maddie Safaya, and we're back tomorrow with more shortwave from NPR.