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Cystic Fibrosis Research

Language switcher.

Cystic fibrosis is a life-shortening genetic disease that affects many organs of the body, especially the lungs. No cure for cystic fibrosis exists yet, but decades of NHLBI leadership in and support for research have led to more and better treatment options.

Effective treatments now allow many people with cystic fibrosis to live well into adulthood. Close to 40,000 children and adults are living with cystic fibrosis in the United States. 

The condition is caused by mutations, or changes, in the gene that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. CFTR helps control how chloride – a component of salt – and other ions are secreted by cells. The chloride attracts water and thins out the mucus the cells produce.

Current research supported by the NHLBI focuses on understanding how changes in the CFTR protein lead to the development of cystic fibrosis. The Institute carries out and supports studies that could lead to gene therapies and other treatments that may help the lives of people who have the condition.

NHLBI research that really made a difference

• Medicines that address underlying causes: NHLBI’s lung program supported decades of research to understand the structure and function of a lung protein that is genetically changed by cystic fibrosis. This foundational work led to the industry discovery of ivacaftor , the first drug to treat the underlying cause of cystic fibrosis, which the U.S. Food and Drug Administration (FDA) approved in 2012.
• Effective combination therapies: NHLBI-supported clinical trials led to the approval of a triple combination of CFTR modulator medicines that improves lung function in about 90% of people who have cystic fibrosis. However, further studies have shown that people of color are less likely than white people to have mutations that are eligible for treatment with current CFTR modulators. Researchers supported in part by the NHLBI are investigating these disparities. The Institute is also funding projects to develop treatments that will work for people who have less common CFTR mutations.
• Remote monitoring of lung health: As COVID-19 made in-person healthcare visits more challenging, an NHLBI-funded study developed an at-home diagnostic tool for measuring how well the lungs work. The FDA-cleared system uses a handheld breathing device and a mobile app called Breathe Easy. Patients blow into the device and communicate directly with their healthcare provider, who can monitor how well their lungs are working and adjust medicines as needed. Between April 2020 and May 2021, the Cystic Fibrosis Foundation distributed nearly 20,000 of the devices to people with cystic fibrosis in the United States. A study showed results were reliable 81% of the time for a sample of 48 patients who used the portable device with the app.

Find  funding opportunities  and  program contacts for cystic fibrosis research. 

Current research funded by the NHLBI

Our Division of Lung Diseases and its Airway Biology and Disease Branch oversee much of the research on cystic fibrosis that we fund.

• Biomarkers of declining lung function: The NHLBI Catalyze Program is supporting the development of a biomarker-based platform that predicts lung function decline in patients with cystic fibrosis and a web-based application to inform physicians when a patient may require therapeutic interventions.
• More options for disease modulators: Investigators are studying CFTR protein folding and the use of modulators for patients with rare variant mutations not typically eligible for cystic fibrosis modulator therapy.
• Monitoring methods with fewer side effects: Researchers are combining noninvasive, radiation-free imaging and proteomic biomarkers to diagnose and monitor lung disease progression in kids with cystic fibrosis.

Current research on cystic fibrosis treatments

• New treatment strategies: Although treatments improve lung function for many living with cystic fibrosis, some people have CFTR mutations that do not respond to available CFTR modulators. Even those whose disease responds to CFTR modulators still have trouble clearing bacteria out of their lungs. We are supporting a project, Novel Strategies to Clear Bacteria from the CF Lung , that aims to develop an inhaled medicine to shift the lung’s immune balance to help clear bacteria from lungs of people with cystic fibrosis.
• New treatment mechanisms: NHLBI-funded studies are testing whether a medicine to correct acid problems in the blood can also help reduce acid levels in the airways , which can then prevent or slow the development of cystic fibrosis.
• Better medicines to fight mucus: Researchers are developing new medicines to help clear and target the thick mucus found in cystic fibrosis lungs and improve how well the lungs work. This can also help prevent inflammation and infection.
• Antibiotic alternatives: Investigators are studying the thiocyanate (SCN−) analog selenocyanate (SeCN−) as an alternative therapeutic for the treatment of cystic fibrosis lung pathogens that are difficult to treat with current antibiotics.

Watch videos of a 2022 workshop that brought together experts from the NHLBI and other parts of NIH, as well as the Cystic Fibrosis Foundation, to identify future research needs for treating cystic fibrosis.

Current research on gene editing and cystic fibrosis

The NHLBI is supporting research on new genetic therapies to treat cystic fibrosis. For example, researchers are studying state-of-the-art gene delivery tools and technologies that may be better at delivering a corrected gene to lung cells. Researchers are also working on better methods to improve genetic therapies in the laboratory before moving to clinical trials.

Through the NIH Common Fund Somatic Cell Genome Editing (SCGE) Program , the NHLBI supports studies that explore new genetic therapy approaches to repair the cystic fibrosis gene, among others.

• Gene editing for lung disease: Studies using CRISPR gene editing tools will correct genes in the cells that line the airways. Using these tools could lead to new treatments for genetic and acquired lung disease.
• Gene editing for cystic fibrosis: A research program is developing combinatorial nonviral and viral CRISPR delivery for lung diseases. These studies focus on efficiently targeting gene editing tools to diseased lung cells in people who have cystic fibrosis.

To identify research barriers and challenges to using gene editing as a means to cure cystic fibrosis, the NHLBI participated in a joint workshop with the Cystic Fibrosis Foundation in 2018. The Institute also participated in a 2020 virtual workshop to discuss challenges and opportunities that could be addressed in a potential second phase of the SCGE program.

The NHLBI funds other studies of gene editing for cystic fibrosis as well.

• Molecular targets to treat cystic fibrosis: The NHLBI supports research for new molecular therapies , including gene editing. Molecular therapies have helped restore the CFTR protein function for some but not all people with cystic fibrosis. New research uses airway cells and animal models to look for more ways to prevent and treat this condition.
• How nanoparticles may improve treatment effectiveness: To improve the delivery of gene editing tools and other therapeutics, researchers are developing more effective virus-inspired nanoparticles to penetrate mucus barriers in diseases with thick mucus like cystic fibrosis. 

Find more NHLBI-funded studies on gene editing and cystic fibrosis at NIH RePORTER.

Read more about NHLBI-supported research on gene editing, which involves making changes to a specific DNA sequence to correct the mutation in the cystic fibrosis gene: Genome editing for cystic fibrosis: A Q&A with Peter Glazer, Ph.D., M.D.

Current research on understanding the causes of cystic fibrosis

• New treatment and prevention: NHLBI-supported scientists are carrying out Multi-Scale Investigations of Respiratory Mucus/Mucin Structure and Function in Health and Disease designed to build a solid foundation of knowledge about mucus, how it forms, and how it works to protect the body from infections. The resulting knowledge could lead to new ways to treat and prevent lung problems that result from the thick, sticky mucus caused by CFTR mutations.
• Origins of disease: Scientists are using a cystic fibrosis animal model to study the origins of cystic fibrosis airway disease . Researchers hope this will help speed up the development of new treatments for early lung disease.
• High-resolution imaging to better understand lung disease mechanisms: Another NHLBI-funded study uses an imaging method called optical coherence tomography (OCT) to take high-resolution images of the lungs and the nose. OCT can help researchers better understand how mucus is cleared and how cystic fibrosis affects this process.

Find more NHLBI-funded studies on the causes of cystic fibrosis at NIH RePORTER.

Learn more about how cystic fibrosis changes the airways’ cellular makeup: Molecular analysis identifies differences between healthy lung and lungs of people who have cystic fibrosis .

Cystic fibrosis research labs at the NHLBI

The Division of Intramural Research , which includes investigators from the Pulmonary Branch , is actively engaged in the study of cystic fibrosis.

Related cystic fibrosis programs

• The  Trans-Omics for Precision Medicine (TOPMed) program includes  participants who have cystic fibrosis, which may help researchers understand how genes affect people and how individuals respond to treatment.
• The NHLBI-funded LungMAP research centers are creating molecular maps of the lungs to better understand rare lung diseases in children, including cystic fibrosis.

Explore more NHLBI research on cystic fibrosis

The sections above provide you with the highlights of NHLBI-supported research on cystic fibrosis. You can explore the full list of NHLBI-funded studies on the NIH RePORTER .

To find more studies:

• Type your search words into the  Quick Search  box and press enter. 
• Check  Active Projects  if you want current research.
• Select the  Agencies  arrow, then the  NIH  arrow, then check  NHLBI .

If you want to sort the projects by budget size — from the biggest to the smallest — click on the  FY Total Cost by IC  column heading.

Cystic fibrosis year in review 2021

Affiliations.

• 1 Department of Pediatrics, Children's Hospital of New Orleans, New Orleans, Louisiana, USA.
• 2 Department of Pediatrics, Tulane University, New Orleans, Louisiana, USA.
• PMID: 35501666
• DOI: 10.1002/ppul.25948

People with cystic fibrosis (CF) have an amazing outlook with the treatment availability of highly effective modulators. Unfortunately, not all people with CF are eligible for modulators leading to continued pulmonary exacerbations and advanced lung disease. Additionally, optimizing diagnosis and evaluation for CF in the newborn period continues to be an area of focus for research. This review article will work to cover articles published in 2021 with high clinical relevance related to the above topics; however, due to the extensive body of research published, this review will not be comprehensive.

Keywords: CFTR modulators; advanced lung disease; cystic fibrosis; newborn screening; pulmonary exacerbations.

© 2022 Wiley Periodicals LLC.

Publication types

• Cystic Fibrosis Transmembrane Conductance Regulator / genetics
• Cystic Fibrosis* / drug therapy
• Infant, Newborn
• Cystic Fibrosis Transmembrane Conductance Regulator

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April 29, 2024

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Researchers explore new cell target for cystic fibrosis treatment

by Matt Olson, University of Saskatchewan

A team of University of Saskatchewan (USask) researchers are exploring the role of a newly identified cell type in cystic fibrosis (CF), which could lead to effective new types of treatment.

Researchers led by the College of Medicine's Dr. Juan Ianowski (Ph.D.) in the Department of Anatomy, Physiology and Pharmacology, and Dr. Julian Tam (MD) in the Division of Respirology, Critical Care and Sleep Medicine, recently published a paper in the American Journal of Respiratory and Critical Care Medicine highlighting the function of pulmonary ionocyte cells in CF.

CF disease is a genetic condition caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) protein. Because some potential treatments of CF involve targeting and modifying the CFTR function at the genetic level in sick airway cells, the specific role various types of cells play in CF disease—like the pulmonary ionocyte—is critical for creating targeted treatments. This newly identified cell type is now being explored by Ianowski and Tam's team of researchers.

"We do have a lot to offer when it comes to testing and experimental models," Ianowski said. "Gene therapy treatments, if they work and we have a systematic way of developing them, it's a game changer for this and other diseases as well."

Pulmonary ionocytes, a recently discovered and rare lung cell type, were identified as existing in small numbers—fewer than one percent of the airway surface cells in the lungs. Ianowski and Tam's research suggests that these cells play a crucial role in the pH levels of airway surface liquid (ASL).

"It's been shown that abnormal airway acidity is an important component of CF lung disease pathobiology," Tam said. "What we found is that pulmonary ionocytes regulate the acidity of CF airways."

CF disease affects cells throughout the body and the glands that produce sweat and mucous. Some of the symptoms of CF disease include thickened mucous, difficulty clearing the airways of mucous, and susceptibility to lung infections and other similar issues.

ASL with high acidity has been shown to increase the difficulty of mucociliary clearance and reduce resistance to infection—which means pulmonary ionocytes could be a key factor in how CF disease manifests.

"This minute population of cells express most of the RNA for CFTR," Ianowski said. "So now there is a paradigm shift for the field ... 'Is it possible to tag those cells? How easy is it going to be to fix those cells, and also, with what?' It's a very difficult thing to study because how do you study 0.5% of the entire epithelia?"

Research into this new cell is still ongoing. Ianowski noted that the role and distribution of pulmonary ionocytes do not appear to be random, but the reason and function behind their distribution are not completely understood yet.

This new type of cell has been a focus of CF research around the world since its discovery. While some research has suggested that pulmonary ionocytes play a role in the creation of ASL, Tam and Ianowski's research suggests it affects the acidity of the liquid only.

Better comprehension of the function of the cell—and how that function relates to symptoms of CF—will help support future treatments.

"One of our lab's tools is a specialized technique that allows us to study cells at a single-cell level," Tam said. "We think it's important to correct the appropriate cells for gene therapies, so having an understanding of which cells have which function would allow researchers to do this."

Ianowski said he's excited for new opportunities to collaborate with other researchers in the development of gene therapies to combat CF. While this research team might not be the ones to create those treatments, Ianowski said their unique lab at USask is well-suited to provide the underlying expertise—like their work analyzing the function of pulmonary ionocytes—to help inform the creation of advanced CF therapies in the future.

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• 29 July 2020

Cystic fibrosis

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The basic mechanism of cystic fibrosis is well understood. A combination of genetic mutations stops the production of or mutates a protein that facilitates the movement of chloride ions across cell membranes. This results in a build-up of mucus in the lungs, pancreas and other parts of the body. Over time, bacterial infections set in, which can ultimately lead to death.

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Nature 583 , S1 (2020)

doi: https://doi.org/10.1038/d41586-020-02105-x

This article is part of Nature Outlook: Cystic fibrosis , an editorially independent supplement produced with the financial support of third parties. About this content .

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UB Contributing to Dramatic Results in CF Care, Research

( EDITOR’S NOTE:  This is the first installment in a three-part series recognizing Cystic Fibrosis Awareness Month. For the next two Wednesdays in May, stay tuned for more stories on UB’s research and clinical care efforts in the area of cystic fibrosis.)

By Dirk Hoffman

Published May 8, 2024

One of the most dramatic success stories in modern medicine is the treatment of cystic fibrosis (CF), where therapeutic breakthroughs have dramatically reduced patients’ symptoms and increased their life expectancies.

Researchers and clinicians at the Jacobs School of Medicine and Biomedical Sciences at the University at Buffalo have played key roles in developing game-changing discoveries such as cystic fibrosis transmembrane conductance regulator (CFTR) modulator therapies that are designed to correct the malfunctioning protein made by the CFTR gene. Their efforts are continuing on a daily basis as they seek to develop more novel and improved therapies.

Cystic fibrosis is a progressive, genetic disease that affects the lungs, pancreas and other organs.

There are close to 40,000 children and adults living with cystic fibrosis in the United States (and an estimated 105,000 people have been diagnosed with CF across 94 countries), according to the Cystic Fibrosis Foundation.

During the 1950s, a child with CF rarely lived long enough to attend elementary school. Today, many people with CF are achieving their dreams of pursuing careers, getting married and having children, and living into retirement.

Four Jacobs School faculty members involved with CF recently sat for a roundtable discussion on the state of the disease, new therapeutics and clinical guidelines, and some of the new challenges facing the population.

The faculty members are:

• Carla A. Frederick, MD , associate professor of medicine . She is an adult pulmonologist who takes care of individuals with CF at the Cystic Fibrosis Center of Western New York. She co-directs the CF research program at the center through the Cystic Fibrosis Foundation’s Therapeutics Development Network (TDN). She sees patients through UBMD Internal Medicine .
• Danielle M. Goetz, MD , clinical associate professor of pediatrics . She is a pediatric pulmonologist at Oishei Children’s Hospital and UBMD Pediatrics and director of the Cystic Fibrosis Center of Western New York. She co-directs the CF research program at the center through the Cystic Fibrosis Foundation’s TDN. At the national level, she is serving on the position paper for the new CF Care Model for the CF Foundation and is a leader for the Foundation’s Quality Improvement Network’s mental health lab.
• Ryan C. Hunter, PhD , associate professor of microbiology and immunology . His lab is a group of microbiologists who focus on the bacterial infections that impact the lungs of individuals with cystic fibrosis. The researchers think about how these bacteria are behaving at the site of infection within the lungs of the patient and try to come up with new therapeutic strategies moving forward that can be used to better combat these infections.
• Beth A. Smith, MD , clinical professor of psychiatry and pediatrics and interim chair of psychiatry and division chief for child and adolescent psychiatry . On the national level, she serves as chair of the Cystic Fibrosis Foundation’s Mental Health Advisory Committee, whose goal is the integration of mental health care into routine CF care. Smith also serves on the CF Foundation’s North American Planning Committee as its pyschosocial chair, and on its Clinical Research Advisory Board. Her research is focused on mental health and cystic fibrosis, specifically around anxiety, depression and its effect on disease outcomes, as well as appearance. Smith is also involved in multiple intervention trials, specifically for depression and anxiety, including randomized, controlled trials for CF-specific cognitive behavioral therapy.

Danielle M. Goetz, MD, examines Muhammad Rafay at the UBMD Pediatric Outpatient Center at Conventus. The baby’s family resettled in Buffalo from Pakistan. The New York State newborn screening program revealed the baby has two copies of a CF mutation that is more common in Pakistan.

What is the current state of cystic fibrosis and the research and clinical care surrounding it?

Goetz: It is an exciting time because for those of us who have been involved with CF for many years, we have seen a lot of changes such as a lot of treatments that we did not have previously — mostly the CFTR modulators (the most famous one is elexecaftor-tezacaftor-ivacaftor, or Trikafta) approved for people as young as age 2 as of 2021.

These therapies are helping people live longer lives; they help their pulmonary function and their weight gain. Their overall quality of life improves.

Frederick: When I first started in medicine, I saw so many young patients that did not have a very long life expectancy.

Now, it is almost like a mid-career change for me. Earlier in my career, I was caring for adults who were inevitably getting sicker and who were going for lung transplants, on oxygen, and would need to apply for disability.

Now, in addition to routine daily care, the most common issues adults with CF face are things like thinking about careers, figuring out what they are going do with their life that they never thought they would have to do before — having kids, having grandchildren.

In Buffalo, we have a high percentage of people who have access to CFTR modulator therapy. We currently have 116 adult patients and 68 pediatric patients. It has completely flipped from when we started. There used to be more pediatric patients than adult patients.

Smith: As the life expectancy has increased, it has caused some good challenges. Patients with CF did not plan to live that long. They did not plan for college or a career.

Now some of them are old enough to retire so there are a lot of issues around future planning. They are dealing with conditions such as osteoporosis and dementia — comorbidities that people did not live long enough to have.

Hunter: From a research perspective, it is an exciting time as well. We are most interested in the bacterial infections of the lungs and the nature of those are changing. With these modulator therapies, lung function is improving.

The pathogens are still hanging around, but lung function is getting better. It’s interesting to think about what airway infections are going to look like, moving forward. We are shaping our research in that direction, just trying to think about what lung infection might become, but also some of the comorbidities as well.

For instance, there is an increased risk in colorectal cancer in the aging CF population so my lab is also now thinking about gut microbes and what kind of role they might play in gastrointestinal manifestations of the disease.

CF as a disease ties in really well, timing-wise, with UB’s commitment to aging research. I think it is a great case study of what the aging population is facing.

Tap infographics to enlarge.

Can you speak to the importance of multidisciplinary teams at the CF centers?

Goetz: I think they are a key to the outcomes we have had, even prior to the modulators. The concept of a multidisciplinary care network idea started in the 1960s. In 1997, it became more standardized as there was a guidebook made by the CF Foundation and others.

Key team members are respiratory therapists, dietitians, social workers/mental health providers, physicians and nurses, along with other subspecialists.

Having that team has helped us in our assessment and treatment of the patients. We are assessing the whole person and making sure we are addressing all aspects of care. Each person focuses on and becomes experts in the area of the daily treatments that patients with CF have to undergo.

It is a collaborative effort. We do a lot of pre-visit planning, prior to the clinic visits and try to include the patients in that.

Carla A. Frederick, MD, is an adult pulmonologist who takes cares of individuals with CF at the Cystic Fibrosis Center of Western New York.

What are some of the common comorbidities among patients with CF?

Frederick: Traditionally, pulmonary disease — and nutritional deficits with the inability to absorb fat nutrients — those two areas have treatments for them that CF centers have provided for a number of years.

Also, more commonly as individuals age, CF-related diabetes is one that over half of individuals with CF have some form of, that might move on a spectrum throughout their life

Some individuals have had many treatments over time, that could be toxic to their kidneys so chronic renal disease can develop in some.

Cancer is another big one that is emerging in understanding, and there is not a way where we can just implement screening like the general population. Some of these cancers in the GI form come faster than you would have predicted.

Also, we are in a culture where we always think of mental health, anxiety and depression as something that comes along with chronic illness, especially this one. This is not something that is simply related to feeling down when their heath is worse off, it can also occur when they are feeling better. There are a lot of people who have guilt associated with surviving longer than siblings or friends with CF, or when someone improved on CFTR modulator therapy some feel like their own identity is lost when this new, healthier person evolves.

Hunter: Chronic sinus infection is another one. About 95 percent of patients with CF have them. Maybe not lethal directly, but it is a risk factor for lower airway infection.

How are new therapies and better outcomes affecting the mental well-being of patients with CF?

Smith: It depends on where you are on the lifespan. The children that are born now are going to have a much different mental health trajectory than those who were raised thinking they are going to die earlier than they are.

When the life expectancy changed, it also stirred up a lot of trauma. We are doing a study right now, hearing personal narratives from patients with CF across the lifespan. In the over 50 age group, medical traumatic stress and procedure anxiety is ubiquitous.

These are individuals who have had many, many procedures throughout their life and many traumatic medical procedures and the trauma from them has been layered throughout their lifespan. I feel the interventions we are providing now earlier and earlier are going to result in a much different trajectory.

Is the isolation that patients with CF often feel still a legitimate concern?

Smith: There is often talk about a lack of understanding. During the COVID-19 pandemic, some positives came out of it in that people understood the idea of isolation, of that worry of getting an infection that can potentially kill you.

We all got a taste of that. In some ways, it gave credibility to everything that patients with CF have been going through across their lifespan.

Frederick: The reasons for these isolation guidelines is because of the fear for cross-contaminating different individuals with CF with different strains of bacteria that could become harmful.

Hopefully, future research will lead to relaxing those guidelines because quality of life is important. Separating people in time and space and touch is kind of cruel in this lifelong illness where finding someone who truly understands one’s point of view is difficult.

Beth A. Smith, MD, is involved in a number of  mental health clinical trials that involve cystic fibrosis-specific cognitive behavioral intervention for depression and anxiety and the development of a CF-specific general mental health screener.

What are some of the ongoing clinical trials happening at UB?

Goetz: In children, we are doing observational studies on preschoolers who are on Trikafta, and seeing what happens to their growth parameters and pulmonary function.

We are also doing surveys on personal experience with Trikafta in adolescents. We received a grant from the CF Foundation for all the newborn screening programs at the CF centers in New York state to assure all people with CF and their families have genetic counseling from a genetic counselor trained in CF. This is important due to the increasing complexity of CF genetics and to address unique CF mutations in diverse populations.

Frederick: We are involved in a rollover study from a head-to-head trial between current modulator therapy (elexacaftor/tezacaftor/ivacaftor) versus a once-a day alternative.

It is in the rollover phase where everyone is getting the once-a-day alternative therapy.

Taking a pill twice a day versus once-a-day may seem simple, but it isn’t. There is not a one-size-fits-all. Some people may feel that the current therapy is not good enough because “xyz” side effects happen — weight gain, mental health side effects such as anxiety, etc. Some simply do not have as strong of an improvement as desired.

These therapies are life-changing so more personalized medicine is in the works elsewhere to help make that therapy really great for everybody.

We participated in all the trials coming up to this present modulator therapy.

We dosed the first person with ivacaftor in the world here in Western New York and she just had her second baby a couple of months ago.

We have had a long history of recruiting people with CF to participate and families at first didn’t know what they were getting into, but now enter those trials with hope and excitement.

Smith: In addition to the medication trials, we’ve had a few mental health trials. We worked hard on a randomized, controlled trial of a cystic fibrosis-specific cognitive behavioral intervention for depression and anxiety. We are now in the adolescent pilot phase of the study. Buffalo is also involved in a national randomized, controlled implementation trial. We are implementing different models of how to disseminate this cognitive behavioral therapy that is specific to CF and we are studying it in a randomized way.

Buffalo is also the lead site in a multisite project to develop a CF-specific general mental health screener to pick up on other important and impactful mental health conditions in addition to depression and general anxiety for adults with CF.  

We also have the longest longitudinal database for depression and anxiety screening and are looking at the longitudinal trajectories of depression and anxiety in patients with CF 12 years and older and associations to important health outcomes.

Ryan C. Hunter, PhD, serves on the Cystic Fibrosis Foundation’s basic science grant review committee, which helps the CF Foundation establish its priorities and decide what to fund.

Can you talk about your roles on a national level within the Cystic Fibrosis Foundation?

Smith: I am the founding chair of its mental health advisory committee. It came about after the international guidelines for mental health screening and treatment in CF, where I led the screening portion. The Foundation wanted to figure out how to disseminate and implement these guidelines in the care centers across the U.S. With our initiatives, currently over 95% of individuals with CF 12 and older are screened annually across U.S. CF Centers.

We’ve taken that show on the road and worked to help implement the mental health in CF guidelines in Australia and across Europe. We have international membership on our committee and many of the resources we have created have been translated into 50+ languages.

In some countries without a lot of mental health infrastructure, when individuals are screened for depression and anxiety, that may be one of the only resources they are given.

Frederick: We are also involved in the Success With Therapy Research Consortium that is a branch of the Foundation’s research efforts to help partner with people with CF and their families to see how we can help improve health and self-management.

In a randomized, controlled trial, we are measuring everything and all visits are structured. But in the real world, when things like parenting or having a job, or having a friend come into the mix, does using this therapy still work? We perform some observational research to study these things.

We are involved in a lot of survey studies of qualitative research. Nutrition is a huge topic. In the new era of widely available modulator therapy, what does the world of nutrition look like? There is a study where we are learning about attitudes toward nutrition.

It seems like it would be a no-brainer to take this modulator therapy, but there are lots of other variables, so we are participating in a survey study with all sorts of different parameters for people to see what kind of modifiable or non-modifiable factors are affecting the week they take modulator therapy.

These studies are a really nice way we round out our center. We have mental health; we have care, and we have clinical research, and we have this other consortium where we partner with people with CF to see if we are really on the right track to help their lives be better.

Goetz: We are working with the CF Learning Network, which is the Quality Improvement Network for the CF Foundation. At our center, we do QI projects on all sorts of topics.

They asked me to be co-director of the laboratory on mental health to help design QI projects that the whole network can use. I am also serving on the CF Foundation committee, writing a position paper on the new CF Care Model in 2023-2024.

I have also served on the Foundation’s Therapeutics Development Network (TDN) steering committee. We get to look at all the protocols and see what is coming down the pipeline. We get to help shape what TDN is looking at for the sites.

Right now, they are doing gene editing and mRNA studies, so we are in a regional network of the TDN. We meet with other centers like Pittsburgh, West Virginia, Rochester and Syracuse.

They know there may not be a lot of subjects in Buffalo or each individual center who are eligible for genetic therapy, but we may be able to refer people to other centers within the network. The TDN is dividing the centers into geographic regions so people may more easily participate in studies.

Hunter:  I serve on the basic science grant review committee. Twice a year, a bunch of mostly basic researchers get together and we review applications. They are mostly U.S.-based, but they do accept international.

About 20-to-30 of us get together to review the science, to help the CF Foundation establish its priorities and decide what to fund. We try to make recommendations on which science is the strongest and which proposals are most worthy of being supported by the Foundation.

Is there something about Buffalo or UB’s collaborative spirit that helps your efforts?

Smith: When I first got involved with Drucy (Drucy S. Borowitz, MD, who served as the Cystic Fibrosis Center director at the former Woman and Children’s Hospital of Buffalo for more than 25 years) and some of the other pulmonologists, they were excited to have a child and adolescent psychiatrist who was interested in chronic illness and recognized the need for that.

They were doing collaborative care before it was called collaborative care. I was brought in as another specialist and wound up spending my career in CF because of the multidisciplinary nature and the spirit of collaboration.

Goetz: I became the CF center director in 2014, so we did a year where Dr. Borowitz and I were co-directors before that. She mentored me and we transitioned, but then she was still here until she went to the CF Foundation. Even while working at the CF Foundation, Dr. Borowitz was always there as our mentor. She was always in our corner, always available.

Smith: We would be putting in grants or writing a paper that got rejected for the second time, and Drucy would just take her proverbial red pen and very magically make edits. She was such a great mentor.

Goetz: We are trying to carry on the tradition she started.

Smith: Buffalo is a small center and yet we are involved in so many of these groundbreaking CF research projects. We have such a cohort.

I think it is due to Dr. Borowitz and her culture that patients and their families are very giving of themselves to our studies. Our rates of participation in studies are higher than most centers. Although we are small, we are mighty.

And the individuals are a part of this team of researchers. We have patient advisers on every one of our grants. And all of the educational materials are co-written with individuals with CF.

It has been just a great experience because many of them have said “I never thought I was going to be a researcher” or “I never thought I was going to be an author.”

Goetz: We are working on a CF Foundation position paper that I am helping to write in a group that includes patients and parents. It is asking the question if we need to change the care model now that we have modulators.

Patients and families should be a part of those discussions because they are the ones living it.

Smith: Their lived experience puts everything that we do into context. They are able to look at what we are producing and give us that feedback.

There is so much resilience in this population. Their survival stories are now thriving stories.

( Next Week:  A look at the career of Drucy S. Borowitz, MD, a leader in cystic fibrosis care and research, who changed the course of the disease in Western New York.)

Upcoming Events

Community feedback highlights the importance of CF care teams, in-person CF care, and telehealth.

The Cystic Fibrosis Foundation conducted a national survey of people with cystic fibrosis, families, and clinicians to understand how CF care centers can adapt to meet the changing needs of people with CF.  

Many people with CF are experiencing significant changes to their health. As some experience better health and live longer, their needs are changing and may become increasingly complex with age. For others, their health may not have changed dramatically, so the current CF care they receive needs to be sustained.  

These changes raise questions about routine visits to CF care centers, the importance of CF care teams and other health care providers, and whether care can be provided via telehealth in some cases. To gather input on these questions and more, the CF Foundation conducted the Adapting CF Care Survey in fall 2023 and is now analyzing the results.  

The survey was completed by about 600 adults with CF and caregivers and about 600 clinicians, and focus groups were also held with adults, caregivers, and clinicians. The CF Foundation expects to publish a more comprehensive summary of survey results in fall 2024. Key highlights from the survey results are listed below. 

Most adults with CF and caregivers still value in-person clinic visits.  

Seventy-six percent of adults with CF and caregivers said routine, in-person visits to CF care centers are moderately or extremely valuable. In particular, most survey takers — patients, families, and clinicians alike — said they highly value the hands-on physical exams that take place at in-person clinic visits (more on that below).

Adults with CF and caregivers value their relationships with their CF care teams.

Eighty-six percent of adults and caregivers said it is moderately or extremely valuable to be examined by a CF provider on a CF care team. Focus group participants said they especially appreciate that care teams give peace of mind during a new diagnosis, teach children with CF to advocate for themselves, and maintain close relationships with patients over time.

Adults with CF, caregivers, and clinicians want telehealth to be an option for CF care visits. 

Ninety percent of adults and caregivers and 91 percent of clinicians said telehealth should be offered by CF care centers. Benefits of telehealth cited by survey takers included reducing infection risk, saving time, and missing less work or school. Survey takers also acknowledged the challenges of telehealth, including the limitations of visits without in-person exams and the difficulty of home spirometry. 

Most, but not all, adults with CF have a primary care provider.  

Sixty-eight percent of adults with CF have a primary care provider, such as a family medicine doctor or internist. Primary care providers partner with — and do not replace — CF care teams. They offer preventive care services, such as cancer screening, vaccines, and heart disease risk screening, that are critical as many people with CF live longer lives.

Next steps: Interim guidance influenced by survey results. 

The survey results influenced the development of two CF Foundation position papers, led by a committee of CF clinicians, adults with CF, and parents of people with CF, that will provide interim guidance on the CF care model and the CF care team structure. Position papers describe best practices for CF care and are intended to guide care teams while research is being conducted to inform formal guidelines in the future.  

The committee expects to publish the position papers in fall 2024. Draft versions of the papers are open for public comment from April 24 to May 15 and are available for review at the following links:  

CF Foundation Position Paper on the CF Care Model  

Re-defining the Cystic Fibrosis Care Team, a CF Foundation Position Paper  

The committee is seeking feedback from CF care teams, people with CF, and families of people with CF who have reviewed the draft position papers. Comments may be submitted using this survey . 

The CF Foundation hopes the position papers will help address some of the most pressing issues in the evolving nature of CF care. Thank you to everyone who is able to review the draft papers and submit comments for the committee to consider, and to everyone who took the Adapting CF Care Survey. The Foundation is deeply grateful for your input. 

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