What Are Some Challenges of Finding a Cure for Sickle Cell Disease?
More Programs and Publications Featuring Dr. Marwan Shaikh
In this program:
Working with existing sickle cell disease cures and working toward new cures present some challenges. Dr. Marwan Shaikh and hematology nurse practitioner Maya Bloomberg explain obstacles for patients in sickle cell disease care, challenges to researchers in finding and refining cures, and how patients and others can help improve the possibilities of cures.
Transcript
Interviewer:
Dr. Shaikh, what are some of the challenges for finding a cure rather than supportive treatment in sickle cell disease?
Dr. Marwan Shaikh:
So I think it's a really good question to understand, because we have all this new stuff on the forefront. And as we talk about this, things are going to take time. Took many developer years, research, takes years, and if you think about it, for us to get to this point, it's taken thousands of years to get to this point to be able to do the kinds of things we're doing. CRISPR was somewhere in the 1980s when they were first kind of found out about it for genes, so now we're getting to a point almost 15, 16 years later, we're like, “Okay, we can finally apply this.” And so I think when we think about, “Okay, yeah, this is an inherited genetic disorder,” we're talking about altering genes that have defined us from birth and before, and so that can obviously be very challenging. When it comes to cure, the only cure right now that we have is a bone marrow transplant. And so a bone marrow transplant is essentially where you take someone else's cells, a donor and you transplant them into the recipient or the patient with sickle cell disease. And so, number one, have to find the donor, and so looking for a donor, there is a national registry that people register for, and I think that the chance of finding a donor and the Black population is about 30-something percent. It's low compared to Caucasians, which is much higher. And so first you have to go find the donor to be a proper match. Okay, so once you find a donor, the patient gets chemotherapy, so there are side effects and toxicity to chemotherapy, high dose chemotherapy and usually patients will be admitted to the hospital, and then you get those donor cells back. So anytime you've introduced foreign material into the body, the body can reject it, number one. Then later on down the road, the donor cells can reject the body, and so now you have to give medication, suppress the immune system so that...that doesn't happen. And so there is good data, thankfully, there was…in 2020, there was a meta-analysis, which is a collection of all the different studies have been published put together in one article. And he was doing by some of my colleagues at Mayo, and so they found a true 6,000 some patients that they found that had gone transplant over a number of years. And so they found that long-term survival data is in the high 90s, 97 to 98 percent for adults and very similar to pediatrics, so it's very amazing information, but at the same time, complications from the transplant, whether it's rashes, rejection, could be like 10 to 20 percent, depending on the study. And so you run into those issues as well, so it's not just, “Okay, yeah, I've been cured, but then I have to deal with some of these other complications and…”
So that's one issue. Gene therapy, for example. The challenges in finding and doing therapy is that you have to first find a protein that will latch on to the right DNA sequence, to the right structure at the right location with minimal side effects or changes to the other neighboring genes, and then we have to make sure, that it gets the right genes incorporated into the right place, and once it gets there, then we have to know what happens long-term side of X, does it actually turn on stuff that we didn't know about, you now...do proteins have sequences or do they affect routes that we didn't know about or affect things down the road, thankfully, so far we've talked about the preliminary data says that, “Okay, this looks like it's very promising and working out.” But those are some of the challenges that we ran into.
Maya Bloomberg, APRN:
Can I say one thing just you mentioned to Be The Match, so we talked previously about how minority presentation is so important for clinical trials, but it's equally as important for blood donors and also for bone marrow donors, because again, people from the same racial and ethic background are more likely to find compatible blood or bone marrow compared to somebody else. So we look at how low percentages for finding somebody who would be compatible for a bone marrow or even for a blood transfusion, and it just stresses the importance of why minority representation and have your friends and family donate the lead, if you have sickle cell trait, you can still donate blood and bone marrow to be on the registry for Be The Match, it's a simple swab in your cheek.
And if you were to find a match, they contact you, it's not like you have to do it. They'll see, is it working with you? So it's not like you have all of these strings attached, so I definitely encourage people from different racial backgrounds and profiles to definitely join the registry, and that's going to help raise that number even further for the number of not just we can truly find to help cure sickle cell.
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