CF can affect the lungs, liver, pancreas, kidney, and intenstines, to name a few.

It affects primary caucasian populations, although not exclusively.

Universal newborn screening has allowed CF to be diagnosed upon birth.

Common symptoms include, but are not limited to, high salt concentrations in sweat; persistent coughing, wheezing, and shortness of breath; frequent lung infections; poor growth or weight gain.

Both parents must pass on their defective CFTR gene for their offspring to have CF.

Although treatments allow for management of the disease, there is no known cure for it. 

'Agnese recognized that children who had been diagnosed with cystic fibrosis appeared to be more susceptible to heat exhaustion during the summers and periods of heat waves.

It wasn't until 1989 that the CF gene was eventually discovered, and since that time, there have been more than 1000 different mutations that lead to cystic fibrosis that have been identified within that gene.

There are a lot of nutritional therapies that we start right away at the time of diagnosis.

Right now, the most highly effective CFTR modulator is a treatment that is known as Trikafta [

It really takes a whole team of individuals in order to provide the best quality care for somebody with cystic fibrosis. 

The US Centers for Disease Control and Prevention (CDC) places the US prevalence of

Cystic fibrosis is a genetic disorder caused by a mutation of the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene. Patients with CF typically experience a build-up of mucus, which can to blocking of the airwards as well as increased likelihood for infection. They also may have difficulty with proper digestion and absorption of nutrients.

As such, malnutrition, growth deficiency, and lung damage (among other adverse outcomes) are marked characteristics of the disease.

In honor of Cystic Fibrosis Awareness Month, Jordana Hoppe, MD, a pediatric pulmonologist based at Children’s Hospital Colorado, joined 

 to discuss the disease, its history, pathophysiology, related challenges, prevalence, and therapeutic options.

She talked about diagnostic practices, including the impact of universal newborn screening, as well as the state of research for CF. She also discussed her own recent work with CFTR modulators in pediatric populations.

Hoppe has been involved in numerous publications regarding both CF and pulmonary populations. Currently, she teaches pediatric pulmonology at the University of Colorado School of Medicine and Children’s Hospital Colorado and is a member of the American Academy of Pediatrics and American Thoracic Society.

Podcasts

Jordana Hoppe, MD, discusses the burden of cystic fibrosis on infants and children.

The Rare Disease Report Podcast: Cystic Fibrosis

6564 patients with peripheral artery disease (PAD) who had undergone revascularization

 2.5 mg twice-daily rivaroxaban plus aspirin, versus placebo plus aspirin, for the reduction of composite acute limb ischemia, vascular-related major amputation, myocardial infarction, ischemic stroke, or cardiovascular-related death

 Major bleeding per Thrombolysis in Myocardial Infarction (TIMI); major bleeding per International Society on Thrombosis and Haemostasis (ISTH)

 Significantly lower composite outcome incidence with rivaroxaban plus aspirin versus placebo plus aspirin, with no significant difference in TIMI bleeding, and a greater incidence of ISTH bleeding in rivaroxaban patients

 “There’s always got to be a therapy that’s the first therapy to show it’s reduced something, and it sets the bar for other studies. Once you have something that works, you can now demand other stuff has to work like it.”

 research and innovations are generally not headline discussions at major cardiology meetings such as the 

American College of Cardiology (ACC) 2021 Scientific Sessions.

 this year, the late-breaking agenda was sparse on topics regarding the common disease space. All the same, with distinctions of vascular disease beginning to more frequently deviate from the more popular methodologies and characteristics of progressive cardiology research, the same experts want to see more agents, more fruitful data, from the field of PAD.

VOYAGER PAD provides foundation by which more research can build upon.

’s cardiology research podcast Heart Trials, in alignment with new late-breaking analyses presented at ACC 2021, VOYAGER PAD study author Manesh Patel, MD and his colleague, W. Schuyler Jones, MD, join to discuss the originally published research.

Patel is professor of Medicine and chief of the Division of Clinical Pharmacology and Division of Cardiology at the Duke University School of Medicine.

Jones is an associate professor of Medicine and Population Health Sciences at the Duke University School of Medicine.

in May 2020, VOYAGER PAD assessed selective direct factor Xa inhibitor rivaroxaban, plus aspirin, in patients with PAD who recently underwent revascularization.

Patel and colleagues sought an efficacy endpoint pertaining to composite major cardiovascular and vascular outcomes in treated patients, as well as major bleeding outcomes to interpret treatment safety.

Having been publicly shared and dissected for 1 year now this week, VOYAGER PAD could serve as a bar-setting clinical trial for the reduced risk of severe outcomes in patients with PAD, Patel said.

Listen to Heart Trials on your favorite podcast platforms, including 

The Duke investigators return to discuss the pivotal study of rivaroxaban in peripheral artery disease.

VOYAGER PAD with Manesh Patel, MD, and Schuyler Jones, MD

Phase 3, placebo-controlled clinical trial

10 mg daily dapagliflozin versus placebo, plus recommended therapy, for the reduction of composite worsening heart failure or cardiovascular death

 Reduced occurence composite outcomes among patients with HFrEF, regardless of diabetes status, with treatment of dapagliflozin over observed median 18.2 months

 The patient population was unique from those used in prior SGLT-2 inhibitor trials, as their risks for heart failure hospitalization and/or cardiovascular-related death were considered high by baseline metrics

 “I think the care of patients with heart failure is going to be changed completely as a result of it.”

The second episode of Heart Trials, the newest specialty podcast series from 

, features a look into an agent from possibly the most dynamic drug class in all of 

In this episode of the monthly cardiovascular research series, study author Mikhail Kosiborod, MD, director of Cardiometabolic Research at Saint Luke's Mid America Heart Institute, and professor of Medicine at the University of Missouri-Kansas City, joins to discuss the DAPA-HF trial, as well as the application of dapagliflozin in COVID-19 patients with respiratory failure from the DARE-19 trial.

Share your thoughts on the meeting, and the state of cardiology, with our 2-minute survey!

Published in November 2019, DAPA-HF showed patients with established heart failure with reduced ejection fraction (HFrEF) with and without diabetes, benefitted from dapagliflozin in reduced risk of heart failure worsening or death form cardiovascular disease versus placebo.

The trial followed US Food and Drug Administration (FDA) application-supporting evidence of glycemic benefit among patients with diabetes given the SGLT-2 inhibitor—and preceded growing evidence of other cardiometabolic, cardiovascular, and renal outcome benefits among patients with heart disease.

Kosiborod joined to discuss the unique properties of the SGLT-2 inhibitor drug class, their potential ceiling in treating millions of at-risk Americans, the data which inspired DAPA-HF, and the lasting impact of his and his colleagues’ research.

Following DAPA-HF, Kosiborod turned attention to the DARE-19 trial, which he presented data for at the 

American College of Cardiology (ACC) 2021 Scientific Sessions

The SGLT-2 inhibitor drug class is expanding into treatment indications experts could not have predicted. Learn how DAPA-HF contributed to the understanding of dapagliflozin.

DAPA-HF, with Mikhail Kosiborod, MD

 Schuyler Jones, MD, and Manesh Patel, MD


15,076 patients with atherosclerotic cardiovascular disease

 81 mg versus 325 mg daily aspirin for reduced risk of death, or hospitalization from myocardial infarction or stroke

 Reduced risk of hospitalization for major bleeding

 No significant difference in outcomes between doses over median 26.2 months

 Dose-switching to 81 mg was significant among patients assigned to 325 mg aspirin (42%)

 “More than anything, the process of the trial is important: can we do a pragmatic study on a limited budget in the United States in a relatively short period?”

Introducing Heart Trials, the newest specialty podcast series from 

. Heart Trials is a breakdown of the studies that define modern 

In this first episode, in alignment with new late-breaking research from the 

American College of Cardiology (ACC) 2021 Virtual Sessions

, study author W. Schuyler Jones, MD, and his colleague Manesh Patel, MD, join to discuss the ADAPTABLE study, presented Saturday morning at the meeting and published online at 

In contributing to the current debate of optimal daily aspirin dosage for the reduced risk of major cardiovascular events in at-risk patients, Jones and colleagues presented pragmatic findings featuring 15,000-plus participants suggesting that there is little difference in outcomes and safety associated with 81 mg and 325 mg aspirin.

What they did find, however, was a significant rate of participants switching from 325 mg doses assigned at baseline, to the standard practice 81 mg dose.

After running through a brief history of aspirin use in the US and highlighting the key outcomes of ADAPTABLE, Jones and Patel join to provide background into the research, share their opinions on the trials’ clinical impact, and gauge how future research may be shaped by these outcomes.

Listen to Heart Trials on your favorite podcast platforms, including 

The first episode of the Heart Trials podcast series focuses on new ACC 2021 research into aspirin dosages for reduced cardiovascular event risk.

ADAPTABLE, with Schuyler Jones, MD, and Manesh Patel, MD

, the newest iteration of the American Lung Association’s (ALA) nationally-researched contribution to air pollution-related health interpretation, found that more than 2 in every 5 Americans is living in an area with an unhealthy level of air pollution.

The April report also found significant disparities in polluted regions’ demographics, with people of color three-fold more likely to be exposed to polluted air versus White people. It also observed worsening states of heat exposure by region, and details of climate change influence on diseases including 

The timing of this newest episode of Lungcast, the monthly podcast series collaboration between 

and the ALA hosted by Al Rizzo, MD, aligns with the discussion generated by events including the State of the Air Report and Earth Day.

What’s more, the above conversation depicts the actual role that physicians may play in addressing and combatting climate change from their positions as care providers and advocates of science.

The May 2021 Lungcast episode features Poune Saberi, MD, and Alan S. Greenglass, MD, a pair of physicians, experts, lecturers and collaborators on climate change health research.

Saberi, board president of the Physicians for Social Responsibility Pennsylvania, is a frequently-tapped expert on the subject of fossil fuels and environmental pollution contributing to worsened health outcomes, and is a proponent of renewable energy sources.

Greenglass, a member and immediate past president of the Board of Physicians for Social Responsibility, is a champion of environmental justice, and an expert on climate change-related health outcomes.

The pair join Rizzo, chief medical officer of the ALA, for a comprehensive talk on the health impacts of air quality, extreme heat, climate weather change, and what could be done by their colleagues to address these urgent issues.

Subscribe or listen to Lungcast on your favorite platforms:

https://open.spotify.com/show/1F3u1hKrwxi9snSQ0q3nti

https://podcasts.apple.com/us/podcast/lungcast/id1524712350

Climate change health experts Poune Saberi, MD, and Alan S. Greenglass, MD, join Lungcast for a timely discussion on environmental health issues.

How Air Quality, Extreme Heat, and Climate Change is Affecting US Healthcare

Association for Research in Vision and Ophthalmology (ARVO) 2021 Virtual Meeting

 this week showed investigative gene therapy AGTC-501 provided notable efficacy and safety mark benefit in patients with 

The six-moth findings, presented by author Paul Yang, MD, PhD, of the Casey Eye Institute at Oregon Health & Science University, lead to hope for even greater and more concrete outcomes as the agent is assessed through 5 years in the patients aged ≥6 years old with the rare vision loss disease.

In a DocTalk podcast interview conducted during ARVO 2021, Yang joined to discuss the newest phase 1/2 findings, as well as the properties of benefit being assessed in AGTC-501.

Yang also explained the reason for expansive gene therapy research in XLRP, the role of advocacy and awareness-building in gene therapy research for rare disease, and what he would define as the modern ocular gene therapy care team.

Six Month Findings from a Phase 1/2 Clinical Study of Subretinal Gene Therapy Drug AGTC-501 for X-Linked Retinitis Pigmentosa Show Clinically Meaningful Improvement in Macular Sensitivity

A podcast interview with study author Paul Yang, MD, PhD, on the current research and future implementation of the agent.

Gene Therapy AGTC-501 Hits Phase 1/2 Marks for Rare Pediatric Blindness

 Brad Glick, DO, brought on cosmetic dermatologist Valerie Callender, MD, to discuss practices in cosmetic dermatology. The conversation centered on Callender’s practice, the challenges faced during the COVID-19 pandemic, and the most frequent procedures performed over these past months.

For this episode, Glick continues this robust discussion on trends and technologies in cosmetic dermatology—this time gauging the experiences and perspective of board-certified dermatologist Rebecca Kazin, MD, Director of Clinical Research of Icon Dermatology and Aesthetics. 

Kazin, an experienced injector and trainer, detailed her own cosmetic practices, breaking down the procedures that are most common for her. She spoke in great length on the use of dermal fillers, including differences in injectables, best application practices, and ways to ensure optimal patient satisfaction.

Glick and Kazin also touched on approaches to related procedures, such as skin tightening, cryolipolysis, and micro-needling, thus highlighting the nuances in care, which methods are most effective, and how to navigate the patient-doctor dialgoue. 

The conversation spotlighted a hair product that Kazin developed with the intention of offering an over-the-counter hydrocortisone washout for dry scalp and related conditions. She offered some thoughts on its cosmetic and dermatologic potential and described its journey from inception to marketing.

on iTunes and Spotify to stay up-to-date on all the latest discussions with Brad Glick, DO.

Rebecca Kazin, MD, offers some insight into her cosmetic dermatology practices, including a new hair product that she developed.

Rebecca Kazin, MD: Cosmetic Dermatology Trends, Technologies, and Practices

 The Cleveland Clinic Lung Transplant Program


 conducted annually in the US—a rate which pales significantly to counts of yearly kidney and liver transplants, and is similar to the rate of heart transplants.

The count is in spite of numerous opportunities borne by the growing rate of possibly lethal chronic lung disease in the country, as well as by the fact that lung transplant has become a refined practice since first attempted a half-century ago.

Lung transplant is an infrequent strategy, and comes with a litany of particular parameters for pre- and post-procedure care to assure success. So as long as referrals aren’t met nor sought out, it may be a perpetuating issue of too few practices, too many missed opportunities.

It helps to learn the ropes from a nationally-leading transplant team.

 features a trio of experts from the Cleveland Clinic Lung Transplant Program:

Maryam Valapour, MD, MPP, Pulmonologist and Director of Lung Transplant Outcomes at the Clinic, as well as Senior Investigator at the US Scientific Registry of Transplant Recipients.

Wayne Tsuang, MD, MHS, Staff Physician in Pulmonary and Critical Care Medicine

Carli Lehr, MD, MS, a Fellow in Pulmonary and Critical Care Medicine

The 3 surgeons, representing the first panel interview guests on the monthly American Lung Association (ALA) podcast series, joined ALA chief medical officer Al Rizzo, MD, for a discussion on lung transplant referral, research, and resourcing strategies.

Along the way, the team also hit on the intricacies of transplant strategy inside and outside of dominating healthcare issues, including COVID-19 and gender outcome disparities.


A trio of experts from the Cleveland Clinic join Dr. Rizzo for a talk on lung transplant trends and challenges in the US.

Advancements in Lung Transplants with the Cleveland Clinic Team

Estimated US prevalence is between 150,000 and 200,000 individuals. 

There are limited treatment options, and there is currently no cure for it.

It is considered chronic if the disease is active for 2-5 years.

Roughly 5-10% of patients will have advanced sarcoidosis. Symptoms may include fatigue, pain, cognitive failure, small fiber neuropathy, inability or difficulty in exercising, and other comorbidities. 

We don't know what causes it. The theory is that you get exposed to something in the environment that triggers an abnormal response in the immune system.

It's historically been a difficult disease to manage because it can present in so many different ways.


Some patients will get diagnosed as an incidental finding.

One of the tricky parts about sarcoidosis is that while certainly the disease can affect your quality of life, a lot of the medications we use can also affect quality of life as well.

Sarcoidosis is often known as 'the great mimicker'.

April is Sarcoidosis Awareness Month, an opportunity to reflect on the challenges and opportunities for optimizing the diagnosis and care of patients with the systemic inflammatory disease.

Patients with sarcoidosis may present with granulomas on various organs of the body, such as the lungs, the heart, or on the skin. While treatment may be necessary in severe or life-threatening cases, most affected indivdiuals may not even have to take medications for it.

In fact, it can be up to the discretion of the clinicians to determine whether treatment is even necessary. Of course, that doesn’t mean it should be wholly neglected. Careful monitoring and management of sarcoidosis is warranted, and clinicians should be aware of the specific organs affected.

, pulmonologist Ennis James, MD, professor and Program Director of the Susan Pearlstine Sarcoidosis Center of Excellence at the Medical University of South Carolina, spoke on the particular uncertainties clouding sarcoidosis, namely its origin and cause.

James has largely focused on improving sarcoidosis care through clinical practice and research — thus, he offered to advice to both practitioners and patients on how best to manage the disease and seek support.

He touched on the disease’s history, challenges for sarcoidosis patients, decisions healthcare providers must make, diagnostic and screening practices, as well as directions for future research. 

Foundation for Sarcoidosis Research (FSR)

 as a member of their Scientific Advisory Board. He is also on the steering committee for their Clinical Studies Network.

To listen to more rare disease reports, be sure to 

 to the Rare Disease Report Podcast on iTunes and Spotify.

Ennis James, MD, discusses the challenges and lingering questions associated with sarcoidosis 

The Rare Disease Report Podcast: Sarcoidosis

 Important dates in tuberculosis history


Greatly burdened with rampant cases and no certain treatment just a century ago, the US has become a model for reduced prevalence and severity of the respiratory infection in modern day.

Still, nearly 9000 new TB cases were reported in 2019, and the rate of latent TB infections is estimated up to 13 million. The goal of tuberculosis elimination is far from reached in even the US, but progress has been substantial.

In commemoration of World TB Day on March 24—the date reflecting Dr. Robert Koch’s discovery of 

 in 1882—this month’s episode of Lungcast features a discussion on TB history and possible elimination with a national thought leader.

Philip LoBue, MD, Director of Tuberculosis Elimination at the US Centers for Disease Control and Prevention (CDC) National Center for HIV/AIDS, Viral Hepatitis, STD, and TB Prevention, joins the March episode to provide expert perspective on everything occurring in the respiratory infection.

Lungcast is a monthly podcast series from 

 and the American Lung Association (ALA), hosted by ALA chief medical officer Al Rizzo, MD.

Rizzo and LoBue reflect on the storied history of tuberculosis in the US—and their respective institutions’ work in helping mitigating it—as well as the current regimen of care available for affected patients.

CDC tuberculosis lead Dr. Phillip LoBue joins to discuss the past and present issues of the disease, in time for TB Awareness Day on March 24.