04 November 2020

Top Takeaways from the 2020 North American Cystic Fibrosis Conference

For the first time ever, the annual North American Cystic Fibrosis Conference was held virtually (due to the COVID19 pandemic) in October 2020.  

Although one of the best parts of NACFC is getting to meet with clinicians, researchers and parents in the hallways between sessions (and sometimes adults with CF who come too), one of the hardest parts of NACFC is not being able to go to all of the great sessions going on simultaneously.  

If there was a positive about an all virtual NACFC, it was that, since it was online, I had a chance to watch all of the great sessions I wanted to see.  Content was streamlined this year and most sessions were provided OnDemand for several weeks for attendees.  I've been told that a good portion of the sessions will be placed on the CFF's Youtube page in the next month for all to see.

While I missed getting to see people in person at NACFC, I loved being able to really soak up the information.  I really loved all of the new topics that were discussed this year and those topics that moved forward.  I am regularly in awe of the amazing work that happens each year around the world that is presented each October.

Without further adieu, let me present my top takeaways from the 2020 North American CF Conference:

1.) The CF Gut is getting some serious attention in the research and clinical space.

I really loved Plenary 3 this year about all of the new parts of CF Care that haven't yet been fully explored: nutrition, liver, pancreas and intestine.  

Considering Bennett's CF has been more GI-related than lung-related, I am particularly thrilled that there is a new focus on understanding how CF works in the digestive system.  

There was an excellent video shown during the plenary about the GI system, much like we've had for years about CF and the respiratory system (will post here as soon as it's released).  

My favorite take away, however, was the comment that scientists believe dysmotility and dysbiosis in the GI system are the "bronchiectases" of the lung system.  Basically, this means that scientists believe that  dysmotility (muscles in digestive system don't work properly) and dysbiosis (microbial imbalance) in the CF GI system indicate CF-related damage, just as scientists believe bronchiectases in the lungs indicate CF-related damage.  The great thing now is, upon knowing this, researchers will begin to understand these particular markers in the body so they can begin to address CF-related gut problems earlier.

2.) Addressing mental health in people with CF continues to be a priority, with a special awareness of those taking Elex/Tez/Iva.

I really liked hearing more about mental health in the CF community.  It's clear that while Trikafta is a blessing to our community, for some people with CF, Trikafta has brought a type of existential crisis of sorts: mental health challenges not previously experienced.

There was a very interesting session regarding mental health for those taking Elex/Tez/Iva (brand name: Trikafta).  What I learned is that there are real issues for some people on Trikafta...but so far, it seems those who indicate they are having more mental health problems on Elex/Tez/Iva are those who mental health problems previously existed and were likely exacerbated by the new Trikafta medicine.  

This new insight felt reassuring to me as Bennett will hopefully soon have access to Trikafta and I have worried this med might negatively affect his mental health.  Reassuringly for pediatric patients, most have not indicated new mental health on this med.

For those who are struggling with mental health on Trikafta, there are many clinical interventions that can be explored to improve mental health,  such as changing doses.  But this is an area that will continue to be researched, especially with regard to psychotropic drugs.    

3.) COVID and Trikafta are a double duo of changes to CF Care in 2020.

The CF Community had two significant events that may have forever affected the trajectory of CF Care: FDA approval of Trikafta for people ages 12+ in 2019 and the COVID19 pandemic in 2020.FDA Approval for Trikafta forever changed CF Care in that it will make it so that most of the CF Community will be significantly more healthy over time and will need less intervention in the future to stay healthy.The COVID19 pandemic initiated widespread implementation of virtual CF visits that will likely continue in some form in the future.  

The unfortunate thing about these two confounding events happening at nearly the same time is that, together, they will make data trend origins difficult to identify.  However, there is some data between the two events that does show us that Trikafta is having a significant affect on people with CF.

Alex Elbert from the CFF Registry Team explained in the chart above: "Pulmonary exacerbations started a trend lower at the end of 2019, when nobody in the US heard about Sars-Cov-2 virus.  The drop is a clear evidence of Trikafta effect on the pulmonary exacerbation rate.  The data in 2020 will combine both effects." I thought that was pretty exciting to hear/see!

4.) There is an effort to make sure the diversity of the CF Community is fully appreciated in all areas of CF Care.

There was a great NACFC session called, "Culturally Competent Care" which addressed a variety of issues that clinicians treating CF should and are beginning to think about.  For example, how to address unique needs of transgender patients (such as chest binding) and how to be mindful of systemic bias that exists within the healthcare system.  

I thought the session was enlightening and really refreshing.  One of my favorite quotes was from Susanne Muenzel who said, "Cystic Fibrosis is most prevalent in non-Hispanic White patients. However, as the US population becomes more racially & ethically diverse, minorities represent an increasing portion of patients."

I appreciated hearing the stories of Raeshaun ( and Terry and Michele White (

5.) There is movement on the Path to a Cure for whom modulators are not an option. 

The first NACFC Plenary addressed the issue of curing CF beyond modulators.

There are three different ways currently being researched to do this: mRNA, DNA and gene editing. mRNA delivery would restore CFTR protein irrespective of mutation.  The goal would be restore the CFTR activity to the secretory cells and ionocyte cells. mRNA and DNA therapy would likely be therapy that would need to be repeated (within months).  

Gene editing would not likely need to be repeated.  Gene editing would be focused in the basal cells and may be performed in either specific or mutation-independent manner.

"One we have developed methodologies that work in the airway, the goal is then to begin to apply them whe ther it's the pancreas, the GI tract or other affected organs." said presenter Brian R. Davis, PhD.

CF is an ideal candidate for genetic based therapies.

"The future is quite bright: what it holds is that the Foundation has set the path for evaluating several therapeutics, in parallel, in an effort to develop, in a very time effective manner, the most efficient and safe molecular therapeutic that can be effectively re-dosed." -presenter, Maria P. Limberis, PhD.

It is expected that a clinical trial for nonsense therapy will begin this year and a first mRNA therapy clinical trial is expected in 2021.

6.) We are learning more about how to better address the needs of people with CF-related Diabetes Care.

As patients with CF grow older, they acquire additional health complications.  Diabetes is one of the most common co-morbidity in adult CF patients.

It is thought that modulators may change the course of CF-Related Diabetes disease for CF Patients, especially in those patients who might have early diabetes.  However, we will have to wait to see what the data says.

Endocrinologist Marisa Desimone, MD shared in her excellent presentation, "It's important to remember that very few CF patients have a very truly normal glucose metabolism."  

Desimone explained studies suggest there is a benefit to screening CF patients for CFRD as early as age 6.

Desimone went on to explain that the primary goals in management of CFRD is to improve weight gain, protein anabolism, pulmonary function and survival.  These goals come before the goal of glucose control (which is one way managing CFRD is very different from Type 1 or Type 2 diabetes).  She shared that CFRD complications in people with CF are primarily micro-vasular,

I also learned during this session that insulin is the only recommended treatment for CFRD and that some patients may only need treatment during acute illness.

I was really thrilled to learn that, in the same way CF Teams are beginning to recognize the value of having a GI doctor on the multidisciplinary CF team, there is an increased awareness to the value of having an endocrinologist on the CF team.

7.) Recent large-scale study shows CF Carriers may, in fact, affect your health. 

In this recent study, researchers have shown to have detected an increase prevalence for 57 out of 59 CF-associated conditions.  Just some of the conditions evaluated and found to be related were chronic sinusitis, infertility, bronchiectasis, NTM infections, etc.  

CF conditions previously not associated with CF Carriers included constipation, Type 1 or secondary diabetes, short stature, failure to thrive and scoliosis. 

The two conditions that CF Carriers did not see odds-ratio increased were: osteoporosis and cirrhosis.  

In the picture above, all 59 conditions evaluated are listed.  The blue dots indicate conditions that are increased odds-ratio for people with CF.  Red dots indicate conditions that are increased odds-ratio for CF Carriers.  As demonstrated in the above image, while people with CF had a higher odds-ratio of these conditions, CF Carriers also had an increased odds-ratio.  

Morbidity could impact large numbers of people given that there are greater than 10 million CF Carriers in the US alone.  The burden of disease related to CF Carrier status may be sufficient enough to consider it it's own well-recognized but less severe disease. "In a way being a CF carrier, at least for the population may raise the possibly of increased risk of CF-related conditions," explained University of Iowa CF Director, Douglas B. Hornick, M.D.   

Dr. Hornick says, "Perhaps, it may be time [for genetic counselors] to edit or rethink the recommendation [to CF Carriers] by saying, 'CF may affect your health', rather than does not or categorically does not affect your health." 

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