Can a person’s nasal cells tell us whether they should take Trikafta?

Dr. Paul Eckford (left) and Dr. Christine Bear (right) smiling during the Cathleen Morrison Award Lecture.

SEPTEMBER 19, 2022

Participants in this week’s Cathleen Morrison Research Impact Award Lecture with Dr. Christine Bear were treated to a fascinating look into how donated nasal cells may be used to predict how people will respond to cystic fibrosis treatment.  

The CFIT program at SickKids maintains an open bio-bank of nasal cells and stem cells donated by 134 individuals with cystic fibrosis – most of them Canadians – that are studied by scientists around the world. The CFIT program is developing tools and technologies for precision, personalized medicine in CF. 

Dr. Bear is a researcher at the Hospital for Sick Children (SickKids). Her study, currently underway thanks to funding from Cystic Fibrosis Canada via a generous grant for basic science research from the Sarah Gordon Sutherland Memorial Fund, is looking at how individuals’ nasal cells respond to Trikafta in the lab, and mapping the results against those same individuals’ response to Trikafta in real life.  

If the nasal cell models (known as “avatars,” because each one represents the specific person who donated the cells as part of the CFIT program) turn out to accurately predict a person’s response to Trikafta, this could be a way to guide decisions about access to medicines.  

Trikafta is known to be effective in most people with the F508del mutation, but there are numerous other rare mutations in the same class as F508del that affect the shape of the CFTR protein in a similar way. That means that we might expect the treatment to work in people with these Class II mutations. In the absence of clinical trial data on these rare mutations, nasal avatars could be used to predict whether people with that mutation will respond to Trikafta.  

“We’re trying to build the argument that the avatars are useful in predicting clinical outcomes,” explained Dr. Bear. “Our hypothesis is that if a drug responds in someone’s avatar, it may forecast how they would respond to the drug, in terms of their lung function.”  

Dr. Christine Bear, 2022

Dr. Bear was given the Cathleen Morrison Research Impact Award in recognition of the exciting potential of this work. The award goes to the project that is ranked highest by the community members who participate in our grant-reviewing process. 

Scientists are also using cells donated through the CFIT program to create stem cell models that can be used to test novel strategies to repair rare mutations. Unlike nasal cells which can only grow in the lab for a short period of time, stem cells are long-lived and can be expanded into many cultures, so they make it possible to do large-scale testing of laboratory compounds. Stem cells may allow the development of personalized therapies for individuals with rare CF mutations, and can capture patient-to-patient variability in responses.  

“I want people to know that CFIT is still serving the CF community, and not only through the work we’re doing at SickKids,” said Dr. Bear. “This is an open resource for academics and pharmaceutical researchers around the world.”  

Dr. Christine Bear, 2022

Thanks to dedicated scientists, community members and the donors whose generous contributions allow us to support this work, personalized medicine for people with cystic fibrosis may be possible in the not-too-distant future.  

We appreciate all those who attended the webinar to hear about this exciting and important work. Watch a recording of the webinar here: