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Managing Cystic Fibrosis - Outcomes, Challenges and Treatment Developments
In this podcast, Christopher Oermann, MD, Director of the Cystic Fibrosis Care Center at Children's Mercy Kansas City, discusses the current state of cystic fibrosis, developments and research underway, and how primary care providers can partner in managing the overall health of patients with cystic fibrosis.
Featured Speaker:
Learn more about Christopher Oermann, MD
Christopher Oermann, MD
Christopher Oermann, MD is Pediatric Pulmonologist; Division Director, Pulmonary & Sleep Medicine; Director, Cystic Fibrosis Center; Professor of Pediatrics, University of Missouri-Kansas City School of Medicine; Clinical Professor of Pediatrics, University of Kansas School of Medicine.Learn more about Christopher Oermann, MD
Transcription:
Managing Cystic Fibrosis - Outcomes, Challenges and Treatment Developments
Dr. Andrew Wilner: Welcome to Pediatrics in Practice with Children's Mercy Kansas City. I'm your host, Dr. Andrew Wilner.
My guest today is Dr. Christopher Oermann, Director of the Cystic Fibrosis Care Center at Children's Mercy Kansas City. I invite you to listen in as we discuss the challenges of cystic fibrosis as well as recent treatment advances. Welcome, Dr. Oermann.
Dr. Christopher Oermann: Thanks, Andrew. It's a pleasure to be with you this afternoon.
Dr. Andrew Wilner: Dr. Oermann, to get started, could you tell us what cystic fibrosis is and how many people have it?
Dr. Christopher Oermann: Cystic fibrosis is a genetic disease that affects about one in 2,500 individuals of Northern European Caucasian ancestry. There are probably 35,000 people in the United States with cystic fibrosis and a similar number in the rest of the world, so about 70,000 people altogether. Cystic fibrosis isn't specific to the Caucasian population, however. We do see cystic fibrosis or CF for short among Latinos as well as indigenous black and Asian population. So it's a disease that's seen all over the world.
Dr. Andrew Wilner: What happens to people who have it?
Dr. Christopher Oermann: So the primary problems are that protein in the cell surface in different organ systems throughout the body doesn't work properly, or isn't present in sufficient numbers to function. So, because this protein acts as a channel to let salt in and out of the cells as well as water, you get dehydration of the secretions that these different organ systems produce. So in the respiratory tract, you get thick, sticky mucus that obstructs airways. And then the GI tract, you get thick, sticky secretions that cause the ducts of the pancreas to become obstructed so that the pancreas no longer works and you have malnutrition. In the lung system, you do get sort of a cycle of airway obstruction caused by the secretions and then infection and inflammation that causes a vicious cycle to cause progression of lung disease.
Dr. Andrew Wilner: So it's a multisystem disease. And I guess we tend to think of children with this disorder. Is that because it's difficult to make it to adulthood?
Dr. Christopher Oermann:Historically, that was the case, but it certainly isn't anymore. When I started in this business 30 something years ago, cystic fibrosis really was primarily a disease of children. And pediatric hospitals and pediatric care providers took care of the adults that lived into adulthood.
These days, there are actually more adults than there are children with cystic fibrosis. That's a statistic that flipped probably two or three years ago. So cystic fibrosis is very much a disease of both adults and children at this point in time.
Dr. Andrew Wilner:Well, that's really amazing. So you are the Director of the Cystic Fibrosis Care Center at Mercy. And what's your personal experience? How many patients do you have?
Dr. Christopher Oermann: So at Children's Mercy, we provide care for about 240 kids with cystic fibrosis. We're probably in the top quartile of CF care centers in the United States in terms of the number of patients that we serve.
Dr. Andrew Wilner: Up until now, it's my impression that the treatment has been largely symptomatic to address these dry secretions and try and improve pulmonary function and gastrointestinal function. Is there anything new that we have to offer?
Dr. Christopher Oermann: So you're exactly right in that up until a few years ago, all of the therapies that were developed over the last decades were developed to address end-organ problems like airway infection, airway, clearance issues, inflammation and, of course, malnutrition and GI problems.
Two years ago, there was an FDA approval for what's called a CFTR modulator. CFTR is the abnormal gene and protein in people with cystic fibrosis and a drug was developed and marketed a few years ago that basically corrects that underlying problem and allows CFTR to function better. So we're finally able to address the underlying cause of CF and it's not specific to the lungs or the GI tract because it addresses the underlying problem with the protein. It's a universal therapy for those different organ systems.
Dr. Andrew Wilner: And it works?
Dr. Christopher Oermann:It works remarkably well. There have actually been a series of drugs and FDA approvals that actually stretched back for several years. The initial approval was for a single mutation in a very small CF population, and that worked quite well. Then, we saw over the succeeding years, broadening the types of mutations that were treated as well as the age range down to six months of age at this point.
So the big breakthrough was again two years ago when a combination therapy was released that basically is available for 85% to 90% of people with CF and works incredibly well across the board for all types of symptoms.
Dr. Andrew Wilner: Well, I'm just going to editorialize a little bit and just say I think it's unbelievable that years and years of scientists, you know, wearing white coats and working in laboratories, finally they're able to come up with something due to the understanding of the pathophysiology and the gene and the protein and develop a treatment. I mean, it sounds like science fiction, but it's here today. I think it's remarkable.
Dr. Christopher Oermann: It is absolutely remarkable. Both from a scientific standpoint, as well as from a human standpoint. Again, I've been doing this for a long time. And 30 years ago, it was very common for children with cystic fibrosis to die. These days, we really don't see that anymore and it's truly been because of a collaboration between scientists all over the world, as well as the cystic fibrosis foundation that really participated in this scientific discovery and funded a lot of the drug development that has gone on to lead to what's really a remarkable breakthrough, both scientifically and, again, in terms of human results and outcomes. You know, these new CFTR modulators are really life-changing for the individuals who are being treated.
Dr. Andrew Wilner: What does that mean exactly? You mentioned that the children tend not to die anymore, but what do you see now in terms of outcomes, life expectancy, quality of life? Is this a cure?
Dr. Christopher Oermann: It's not a cure, but it certainly has a huge and profound impact on all the areas you just mentioned. Again, the clinical trials that were done included people from very mild disease to fairly severe disease. And what we saw was dramatic improvement in lung function across the board. Whether you had mild lung disease versus severe lung disease, we saw dramatic improvements in lung function. We saw significant declines in the number of infectious episodes people have in a year. We saw improved nutrition. We saw better quality of life scores, just across the board dramatic improvements.
Dr. Andrew Wilner: So given the availability of this drug say, you know, there's a child who's diagnosed with cystic fibrosis. What is special about the care center at Children's Mercy?
Dr. Christopher Oermann:Well, there are a number of things that I think make us special. Number one is that we have been doing this for a long time at Children's Mercy. The CF Foundation accredits CF centers across the country and assign them a specific number. So Children's Mercy's assigned CF care center number is 36. So we were the 36th CF program accredited across the country out of about 130 programs that exist today. So we've got a long history of providing CF care and research and education at Children's Mercy. We also have just an outstanding multidisciplinary clinical care team. We've got physicians and nurses and pharmacists and respiratory therapists and other allied healthcare professionals, all of whom participate in our team and help to improve outcomes for our kids.
The other thing I think really makes us special is that we have a very well-developed mature research team. And Children's Mercy has really developed a culture of research among our patients. We have one of the highest percentages of patients who participate in research of all the CF centers in the country. Again, there's really a culture of research here that has helped to guide some of the development of these drugs.
Dr. Andrew Wilner:Well, given that we have this new treatment that's pretty effective, what are the greatest needs that still remain regarding knowledge gaps and advocacy and awareness? Or do we pretty much have this taken care of?
Dr. Christopher Oermann: I think, again, we've made a huge amount of progress over the last 20 or 30 years, but we're really not at the finish line just yet. As I said earlier, the most recent FDA-approved modulator makes highly effective CFTR modulator therapy available to 85 to 90% of patients. But there's some patients who do not have mutations that are amenable to treatment with these compounds. So I think we still have work to do to make some sort of effective therapy available for all people with CF. So I think that's a big thing.
The other one is that there's a huge need for some of the non-physiologic research that's gone on in CF for a long time. Again, the amount of science that's gone into the development of these modulators is impressive. And we still have a lot more we need to do in the non-physiologic realm, including behavioral health, mental health, and psychosocial function. So I think that's going to be an area of focus in the coming years.
Another big issue is that although we have FDA approval for these CFTR modulators, access is not complete and there are individuals for whom access to care is an issue as well as just overall advocacy for people with cystic fibrosis and their families. So we need to really be aware of those issues and focus on them in the coming years.
Dr. Andrew Wilner: Now, I imagine that in addition to attending your center, a child with cystic fibrosis would probably receive a lot of care from their primary care provider. How does the primary care provider best partner with you so that the child gets optimal care?
Dr. Christopher Oermann:I think it's really critical that there's a strong partnership between primary care providers and physicians at the CF care center. I am not a primary care physician. I don't do developmental checks. I don't do typical childhood immunizations. I just don't provide primary care. And It's important that kids have all of those routine services that a primary care provider provides. So it's really important that they have not only the sub-specialty care that's available here, but primary care providers through their communities.
And it's critical that the two talk. Communication is really critical. And it's important that primary care providers are comfortable handling non-CF-related pediatric care. And that's a challenge a lot of times, is that, you know, many people see cystic fibrosis and like, "Oh no. Not me. That's way too complicated." But again, primary care is primary care. And whether or not a child has cystic fibrosis doesn't really alter that primary care very much, particularly these days, as we see, you know, younger and younger children starting on highly effective modulator therapy. all these kids should stay healthy and symptom-free into adulthood. So again, primary care is really critical.
Dr. Andrew Wilner: Now, I'm an adult neurologist. And I'm just curious how is the diagnosis of cystic fibrosis made? Is it the primary care doctor that suspects something? Is that where it begins?
Dr. Christopher Oermann: Not typically these days. So newborn screening for cystic fibrosis started some decades ago in Wisconsin, in Colorado, and is gradually become universal throughout the United States. So currently, all 50 states include cystic fibrosis on their newborn screening panels. So most states do a two-tier test where they take the blood spots that are done, for example, for PKU or sickle cell or other diseases and they do a screening test for cystic fibrosis called immunoreactive trypsinogen. If that is abnormal, then many states will automatically do genetic testing on the same blood spot sample to look for common CF mutations. So there's newborn screening programs in Kansas. Those reports go to the primary care providers in Missouri. They actually come to us at the CF center and we make arrangements for definitive testing in one of the care centers in Kansas or Missouri,
Dr. Andrew Wilner: Dr. Oermann, this has really been a very enlightening discussion. I want to thank you for bringing us up to date on the advances in the treatment of cystic fibrosis. It's really very good news for patients.
Dr. Christopher Oermann:It truly is. It's been really an honor and a pleasure to be able to see this progress over the last 30 years. And I am extremely hopeful for the future of all kids and adults with CF with highly effective modulator therapy really expect that these kids will live completely normal healthy lives into adulthood like anyone else.
Dr. Andrew Wilner: Thanks very much.
Dr. Christopher Oermann: You're very welcome.
Dr. Andrew Wilner: To refer your patient or for more information, please visit childrensmercy.org to get connected with one of our providers. This has been Pediatrics in Practice with Children's Mercy Kansas City. Please remember to subscribe, rate and review this podcast and all the other Children's Mercy podcasts. I'm Dr. Andrew Wilner. Thanks for listening.
Managing Cystic Fibrosis - Outcomes, Challenges and Treatment Developments
Dr. Andrew Wilner: Welcome to Pediatrics in Practice with Children's Mercy Kansas City. I'm your host, Dr. Andrew Wilner.
My guest today is Dr. Christopher Oermann, Director of the Cystic Fibrosis Care Center at Children's Mercy Kansas City. I invite you to listen in as we discuss the challenges of cystic fibrosis as well as recent treatment advances. Welcome, Dr. Oermann.
Dr. Christopher Oermann: Thanks, Andrew. It's a pleasure to be with you this afternoon.
Dr. Andrew Wilner: Dr. Oermann, to get started, could you tell us what cystic fibrosis is and how many people have it?
Dr. Christopher Oermann: Cystic fibrosis is a genetic disease that affects about one in 2,500 individuals of Northern European Caucasian ancestry. There are probably 35,000 people in the United States with cystic fibrosis and a similar number in the rest of the world, so about 70,000 people altogether. Cystic fibrosis isn't specific to the Caucasian population, however. We do see cystic fibrosis or CF for short among Latinos as well as indigenous black and Asian population. So it's a disease that's seen all over the world.
Dr. Andrew Wilner: What happens to people who have it?
Dr. Christopher Oermann: So the primary problems are that protein in the cell surface in different organ systems throughout the body doesn't work properly, or isn't present in sufficient numbers to function. So, because this protein acts as a channel to let salt in and out of the cells as well as water, you get dehydration of the secretions that these different organ systems produce. So in the respiratory tract, you get thick, sticky mucus that obstructs airways. And then the GI tract, you get thick, sticky secretions that cause the ducts of the pancreas to become obstructed so that the pancreas no longer works and you have malnutrition. In the lung system, you do get sort of a cycle of airway obstruction caused by the secretions and then infection and inflammation that causes a vicious cycle to cause progression of lung disease.
Dr. Andrew Wilner: So it's a multisystem disease. And I guess we tend to think of children with this disorder. Is that because it's difficult to make it to adulthood?
Dr. Christopher Oermann:Historically, that was the case, but it certainly isn't anymore. When I started in this business 30 something years ago, cystic fibrosis really was primarily a disease of children. And pediatric hospitals and pediatric care providers took care of the adults that lived into adulthood.
These days, there are actually more adults than there are children with cystic fibrosis. That's a statistic that flipped probably two or three years ago. So cystic fibrosis is very much a disease of both adults and children at this point in time.
Dr. Andrew Wilner:Well, that's really amazing. So you are the Director of the Cystic Fibrosis Care Center at Mercy. And what's your personal experience? How many patients do you have?
Dr. Christopher Oermann: So at Children's Mercy, we provide care for about 240 kids with cystic fibrosis. We're probably in the top quartile of CF care centers in the United States in terms of the number of patients that we serve.
Dr. Andrew Wilner: Up until now, it's my impression that the treatment has been largely symptomatic to address these dry secretions and try and improve pulmonary function and gastrointestinal function. Is there anything new that we have to offer?
Dr. Christopher Oermann: So you're exactly right in that up until a few years ago, all of the therapies that were developed over the last decades were developed to address end-organ problems like airway infection, airway, clearance issues, inflammation and, of course, malnutrition and GI problems.
Two years ago, there was an FDA approval for what's called a CFTR modulator. CFTR is the abnormal gene and protein in people with cystic fibrosis and a drug was developed and marketed a few years ago that basically corrects that underlying problem and allows CFTR to function better. So we're finally able to address the underlying cause of CF and it's not specific to the lungs or the GI tract because it addresses the underlying problem with the protein. It's a universal therapy for those different organ systems.
Dr. Andrew Wilner: And it works?
Dr. Christopher Oermann:It works remarkably well. There have actually been a series of drugs and FDA approvals that actually stretched back for several years. The initial approval was for a single mutation in a very small CF population, and that worked quite well. Then, we saw over the succeeding years, broadening the types of mutations that were treated as well as the age range down to six months of age at this point.
So the big breakthrough was again two years ago when a combination therapy was released that basically is available for 85% to 90% of people with CF and works incredibly well across the board for all types of symptoms.
Dr. Andrew Wilner: Well, I'm just going to editorialize a little bit and just say I think it's unbelievable that years and years of scientists, you know, wearing white coats and working in laboratories, finally they're able to come up with something due to the understanding of the pathophysiology and the gene and the protein and develop a treatment. I mean, it sounds like science fiction, but it's here today. I think it's remarkable.
Dr. Christopher Oermann: It is absolutely remarkable. Both from a scientific standpoint, as well as from a human standpoint. Again, I've been doing this for a long time. And 30 years ago, it was very common for children with cystic fibrosis to die. These days, we really don't see that anymore and it's truly been because of a collaboration between scientists all over the world, as well as the cystic fibrosis foundation that really participated in this scientific discovery and funded a lot of the drug development that has gone on to lead to what's really a remarkable breakthrough, both scientifically and, again, in terms of human results and outcomes. You know, these new CFTR modulators are really life-changing for the individuals who are being treated.
Dr. Andrew Wilner: What does that mean exactly? You mentioned that the children tend not to die anymore, but what do you see now in terms of outcomes, life expectancy, quality of life? Is this a cure?
Dr. Christopher Oermann: It's not a cure, but it certainly has a huge and profound impact on all the areas you just mentioned. Again, the clinical trials that were done included people from very mild disease to fairly severe disease. And what we saw was dramatic improvement in lung function across the board. Whether you had mild lung disease versus severe lung disease, we saw dramatic improvements in lung function. We saw significant declines in the number of infectious episodes people have in a year. We saw improved nutrition. We saw better quality of life scores, just across the board dramatic improvements.
Dr. Andrew Wilner: So given the availability of this drug say, you know, there's a child who's diagnosed with cystic fibrosis. What is special about the care center at Children's Mercy?
Dr. Christopher Oermann:Well, there are a number of things that I think make us special. Number one is that we have been doing this for a long time at Children's Mercy. The CF Foundation accredits CF centers across the country and assign them a specific number. So Children's Mercy's assigned CF care center number is 36. So we were the 36th CF program accredited across the country out of about 130 programs that exist today. So we've got a long history of providing CF care and research and education at Children's Mercy. We also have just an outstanding multidisciplinary clinical care team. We've got physicians and nurses and pharmacists and respiratory therapists and other allied healthcare professionals, all of whom participate in our team and help to improve outcomes for our kids.
The other thing I think really makes us special is that we have a very well-developed mature research team. And Children's Mercy has really developed a culture of research among our patients. We have one of the highest percentages of patients who participate in research of all the CF centers in the country. Again, there's really a culture of research here that has helped to guide some of the development of these drugs.
Dr. Andrew Wilner:Well, given that we have this new treatment that's pretty effective, what are the greatest needs that still remain regarding knowledge gaps and advocacy and awareness? Or do we pretty much have this taken care of?
Dr. Christopher Oermann: I think, again, we've made a huge amount of progress over the last 20 or 30 years, but we're really not at the finish line just yet. As I said earlier, the most recent FDA-approved modulator makes highly effective CFTR modulator therapy available to 85 to 90% of patients. But there's some patients who do not have mutations that are amenable to treatment with these compounds. So I think we still have work to do to make some sort of effective therapy available for all people with CF. So I think that's a big thing.
The other one is that there's a huge need for some of the non-physiologic research that's gone on in CF for a long time. Again, the amount of science that's gone into the development of these modulators is impressive. And we still have a lot more we need to do in the non-physiologic realm, including behavioral health, mental health, and psychosocial function. So I think that's going to be an area of focus in the coming years.
Another big issue is that although we have FDA approval for these CFTR modulators, access is not complete and there are individuals for whom access to care is an issue as well as just overall advocacy for people with cystic fibrosis and their families. So we need to really be aware of those issues and focus on them in the coming years.
Dr. Andrew Wilner: Now, I imagine that in addition to attending your center, a child with cystic fibrosis would probably receive a lot of care from their primary care provider. How does the primary care provider best partner with you so that the child gets optimal care?
Dr. Christopher Oermann:I think it's really critical that there's a strong partnership between primary care providers and physicians at the CF care center. I am not a primary care physician. I don't do developmental checks. I don't do typical childhood immunizations. I just don't provide primary care. And It's important that kids have all of those routine services that a primary care provider provides. So it's really important that they have not only the sub-specialty care that's available here, but primary care providers through their communities.
And it's critical that the two talk. Communication is really critical. And it's important that primary care providers are comfortable handling non-CF-related pediatric care. And that's a challenge a lot of times, is that, you know, many people see cystic fibrosis and like, "Oh no. Not me. That's way too complicated." But again, primary care is primary care. And whether or not a child has cystic fibrosis doesn't really alter that primary care very much, particularly these days, as we see, you know, younger and younger children starting on highly effective modulator therapy. all these kids should stay healthy and symptom-free into adulthood. So again, primary care is really critical.
Dr. Andrew Wilner: Now, I'm an adult neurologist. And I'm just curious how is the diagnosis of cystic fibrosis made? Is it the primary care doctor that suspects something? Is that where it begins?
Dr. Christopher Oermann: Not typically these days. So newborn screening for cystic fibrosis started some decades ago in Wisconsin, in Colorado, and is gradually become universal throughout the United States. So currently, all 50 states include cystic fibrosis on their newborn screening panels. So most states do a two-tier test where they take the blood spots that are done, for example, for PKU or sickle cell or other diseases and they do a screening test for cystic fibrosis called immunoreactive trypsinogen. If that is abnormal, then many states will automatically do genetic testing on the same blood spot sample to look for common CF mutations. So there's newborn screening programs in Kansas. Those reports go to the primary care providers in Missouri. They actually come to us at the CF center and we make arrangements for definitive testing in one of the care centers in Kansas or Missouri,
Dr. Andrew Wilner: Dr. Oermann, this has really been a very enlightening discussion. I want to thank you for bringing us up to date on the advances in the treatment of cystic fibrosis. It's really very good news for patients.
Dr. Christopher Oermann:It truly is. It's been really an honor and a pleasure to be able to see this progress over the last 30 years. And I am extremely hopeful for the future of all kids and adults with CF with highly effective modulator therapy really expect that these kids will live completely normal healthy lives into adulthood like anyone else.
Dr. Andrew Wilner: Thanks very much.
Dr. Christopher Oermann: You're very welcome.
Dr. Andrew Wilner: To refer your patient or for more information, please visit childrensmercy.org to get connected with one of our providers. This has been Pediatrics in Practice with Children's Mercy Kansas City. Please remember to subscribe, rate and review this podcast and all the other Children's Mercy podcasts. I'm Dr. Andrew Wilner. Thanks for listening.