A scientist pipetting a sample in a lab, with a DNA sequencing display in the background, representing CFTR gene research on pancreatitis.

New Research on the CFTR Gene & Pancreatitis Paves the Way for Innovative Treatments

Exciting new research explored how the CFTR gene is connected to pancreatitis. This gene plays a crucial role in our body and is known for its link to cystic fibrosis. By studying the CFTR gene, scientists can better understand what causes pancreatitis and develop better treatments. Let’s take a closer look at what this study found and what it means for people with pancreatitis.

What is the CFTR gene? 

The CFTR gene creates a protein that controls the movement of salt and water in and out of our cells. If this gene has certain mutations, it can cause cystic fibrosis, which affects the lungs and digestion. Interestingly, earlier studies suggest that more than 20% of chronic pancreatitis patients without clear causes have CFTR mutations. 

Learn More About Genes and Pancreatitis

Want to dive deeper into how our genes play a role in pancreatitis? Check out our Genetics & Pancreatitis page and make sure to watch our webinar: “Pancreatitis and Genetics: New Science Shows Pancreatitis Likely to be Hereditary,” featuring Dr. David Whitcomb from the University of Pittsburgh Medical Center and Ariel Precision Medicine and Dr. Mark Haupt.  

New Research Involving Pancreatitis Patients 

Researchers from the Netherlands and Italy, led by Dora Angyal and Karina Kleinfelder, studied the genetics of pancreatitis, focusing on the CFTR gene. They examined 32 pancreatitis patients with rare CFTR mutations. Through genetic testing, the researchers were able to determine the number and type of these mutations. 

To study how the CFTR gene mutations were affecting how patients’ pancreases function, researchers took a very small amount of tissue from patients’ rectums and made it grow into a mini-organ called an organoid. They had the patients take sweat chloride tests, where they collect sweat from a patient’s skin and measure the amount of chloride in it. These sweat tests showed patients had different levels of gene function. Using the organ models, they found mild impairment in CFTR function in nearly half of the patients. While the impairment wasn’t as severe as in cystic fibrosis, it still has potential to cause pancreatitis by impairing the flow of fluids through the pancreas. Through this innovative testing, scientists learned that pancreatitis patients have diverse genetic mutations that affect CFTR function. 


Can Drugs Approved for Cystic Fibrosis Help Pancreatitis Patients? 

The most exciting part of the study is the potential use of CFTR modulator drugs. These medicines are already approved in the US and around the world to treat cystic fibrosis.

Previously, researchers looked back on records of pancreatitis episodes in cystic fibrosis patients. They found that cystic fibrosis patients using CFTR modulators had a reduced number of pancreatitis episodes over a three-year period. However, no research had been done to directly test whether CFTR modulators could help pancreatitis patients without cystic fibrosis. In this study, researchers tested a combination of 3 approved cystic fibrosis drugs on 6 organoids created from pancreatitis patients’ tissues. The results were promising, showing that these medicines, called “CFTR modulators,” improved the function of the CFTR protein in some patients. These results provide more direct evidence that CFTR modulators could help some pancreatitis patients and might encourage drug companies to consider testing these drugs through a clinical trial in the future.

What’s Next?

This study is important because it shows that pancreatitis patients with certain CFTR mutations have reduced function that can be improved with available drugs. However, scientists still need to do more work to determine which patients will respond to CFTR modulators and whether these drugs will stop pancreatitis attacks. Nevertheless, this discovery brings us closer to developing effective treatments for chronic pancreatitis!

Mission: Cure’s Role

At Mission: Cure, we’re not just observers; we’re actively working to turn scientific discoveries into tangible treatments. We’re advocating for drug companies like Vertex to explore the use of cystic fibrosis drugs in treating pancreatitis. We’re also supporting Ariel Precision Medicine and other innovators working on new therapies for pancreatitis. We won’t stop until we find effective treatments that improve the lives of patients. 


Key Takeaways

  • Some pancreatitis patients have CFTR gene mutations that impair protein function.
  • Drugs already approved for cystic fibrosis may improve protein function in some pancreatitis patients.
  • More research is needed to identify which patients will benefit and whether and how these drugs will improve patients’ lives.

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