Cystic Fibrosis Crash Course with Jordana Hoppe, MD

Jordana Hoppe, MD

In recognition of May’s Cystic Fibrosis Awareness Month, HCPLive® invited pediatric pulmonologist Jordana Hoppe, MD, of Children’s Hospital Colorado, on the Rare Disease Report to discuss in depth the condition’s cause and physiology, prevalence, and impact on individuals.

She explained various methods for management and treatment, as well as the importance of universal newborn screening for optimal care. Hoppe tapped into her experience as a pulmonologist to further flesh out patients experiences with cystic fibrosis.

As parents and patients continue to be instructed in ways to manage presenations and symptoms, research is ongoing to ensure that all affected patients, regardless of age, can have the most effective therapies and medications to improve quality of life.

Below is the full episode, including highlights from the conversation.

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What is cystic fibrosis?

“Cystic Fibrosis is a genetic disease. It is inherited in an autosomal recessive fashion. [It] leads to abnormalities in multiple parts of the body, and these abnormalities are caused by changes in the CFTR protein. This protein is found within cells and is responsible for the passage of salt and water across cells. So, when you have a protein that’s not working correctly, salt and water do not move across the cells, and this leads to the downstream consequences of cystic fibrosis.

"In the lungs, the abnormal movement of salt of water leads to thick, stickier mucus within the airways. When that thick, stickier mucus stays there, it leads to increased risk of infection with certain bacteria and can ultimately lead to lung function decline over time. In the pancreas, there are abnormalities in the pancreatic ducts. There are other parts of the body that can be affected as well.”

What populations does it typically affect?

“The mutation in the CFTR gene occurs with the highest frequency in Caucasian populations. But abnormalities and mutations in the CFTR gene are found within all racial and ethnic groups.”

Can you offer some insight into the patient experience with cystic fibrosis?

“From a nutritional standpoint, in order for people with CF to digest fats and proteins in the food they eat, we give replacement pancreatic enzymes by mouth every time they eat. So, just imagine a newborn baby who’s just a few weeks eating 2-3 hours during the day, and parents are required to give the pancreatic enzymes each time they eat in order for the baby to get the nutrients and calories from that breastmilk or formula they’re receiving.”

“It’s also important to point out that people with CF tend to require more calories than those without CF.”

“So, if you think about what is asked about patients with cystic fibrosis on a daily basis, [...] it can often be a very time-consuming process when they’re well — and even moreso in the setting of illnesses when we ask them to increase the frequency of treatments during the day.”

Can you speak more to some of the diagnostic and treatment practices for these patients?

“Typically, cystic fibrosis is diagnosed within the newborn period. One way it is now being diagnosed is through newborn screening — which is blood testing that is done on all newborns who are born in the United States. By identifying these babies early, we’re able to intervene before they start having a lot of nutritional abnormalities.”

“The treatment that is, at this point, helping patients both in terms of their quality of life as well as their outcomes are CFTR modulators. These are medications that people take orally that help the CFTR protein to work better. They are available for some of the CFTR population, but not all."

"So, right now, the most highly effective CFTR modulator is a treatment that’s called TRIKAFTA — this is 3 medications in 1: elexacaftor/tezacaftor/ivacaftor. This therapy is available for children 12 years or older who have at least 1 copy of the F508 delta mutation.”

What does research look like for cystic fibrosis?

“Recently, I was involved in research looking at the long-term safety of CFTR modulators in younger age ranges—between the ages of 2-5 with the CFTR modulator lumacaftor/ivacaftor. This is a therapy that is now available for people with CF who have 2 copies of an F508 mutation. It’s important for there to be options for CFTR modulation beginning early in life so that we can hopefully prevent and delay some of the downstream consequences of cystic fibrosis [...]."

“There are upcoming studies of TRIKAFTA down into younger age ranges. Right now, we’re hoping that approval down to 6 years of age will be coming shortly from the FDA. And there are studies planned for this modulator therapy down into younger ages ranges as well — down to age 2—that will happen later this year.”

Is there anything else you would like to add?

“It really takes a whole team of individuals in order to provide the best quality care for somebody with cystic fibrosis. When we see our patients in clinic, it really is a team approach, not only with physicians but also with dieticians to help meet the nutritional needs of our patients, respiratory therapists who help us optimize the airway clearance therapies they are receiving, pharmacists who make sure that the treatments we’re prescribing don’t potentially interact or to help us determine the best antibiotic treatment or other therapies that we can use with our patients.”

“We also have social workers and psychologists that are part of our team in order to address any behavioral or mental health concerns that develop for patients as they recognize the impact of the chronic disease on their daily life.”