For CF Patients and Families

In the future we predict that your CF treatment will be as individual as you.

The Program for Individualized CF Therapy (CFIT) was started in 2015 when Cystic Fibrosis Canada, SickKids Foundation and The Hospital for Sick Children joined forces to create a program to accelerate precision medicine for Cystic Fibrosis (CF) patients. What is precision medicine? It is disease treatment that is based on your genetics or cell response.

In 1989 SickKids researchers discovered that CF is a genetic disorder caused by mutations in the Cystic Fibrosis Transmembrane Regulator Gene (CFTR). Some new drugs (CFTR protein modulators) are now approved for certain mutations. However, for many mutations we do not yet have effective drugs available, and even for those where a drug is available, such as the common F508del mutation, the current drugs result in variability in improvement in lung function from patient to patient. Some patients respond reasonably well, whereas others do not respond at all. Our challenge is to understand and better predict who (both adults and children) will improve best on which CF modulator drug, where drugs are available, and support development for new drugs in mutations where there is currently no effective treatment.

To this end, the CFIT Program is creating a bank of nasal epithelial cells and stem cells (iPSCs) from 100 different CF patients. With these cell samples available as models for researchers, new therapies can be tested and perfected to treat CF patients in the future. To maximize the work of the program, different initiatives for researchers such as workshops, grant competitions and an annual meeting are hosted.

How you can help

We thank all patients and families for your interest. As the mandate of the Program for Individualized CF Therapy is to change the future course of disease for CF patients by determining the best medication on an individual patient basis, we are recruiting 100 CF patients representative of the Canadian population with respect to their CFTR mutation (and a small number with relevant mutations internationally). Each will be fully characterized with respect to genomic and clinical phenotypic data. Blood and primary nasal epithelial cells will be obtained from each patient. A small blood sample will be reprogrammed to generate induced pluripotent stem cells (iPSCs). The stem cells can be differentiated into CF-affected cell types, such as lung epithelium, lung organoids, bile ductal cysts, pancreatic cells and virtually any other CF-affected cell type. The resource of nasal cells and stem cells are being used as the basis for assays to determine patient-specific effects of existing drugs and new research compounds for individual CF patients.

We are inviting individuals with the F508del mutation who are not on a CF modulator currently but are about to start ORKAMBI, SYMDEKO or TRIKAFTA treatment (prescribed by their regular physician and drug coverage already in place) to participate. We are also recruiting individuals with two identical copies of select rare mutations to participate in this study. All individuals will come to the Hospital for Sick Children in Toronto for a short visit to collect a small amount of blood and nasal cells.

We understand that costs associated with travel and accommodation, and the need to take time off work or school, may be prohibitive. Therefore, through a generous donor, we may be able to offer travel assistance for those living at a great distance to Toronto (and one accompanying adult if required) who wish to participate.

If you are a CF patient who chooses to participate by donating samples to CFIT, please kindly note:

The total time required at SickKids would be approximately 1 hour.

We will require 2 tubes of blood as well as 2 nasal brushes (1 from each nare)

A third party group is assisting us with travel using donated air miles

We are currently recruiting F508del patients who are about to start on ORKAMBI, SYMDEKO or TRIKAFTA treatment (and have insurance in place)

We are also recruiting patients with two identical copies of certain CF mutations, including:

• 621+1G-T
• 711+1G-T
• G85E
• M1101K
• W1282X
• G542X
• R334W
• N1303K
• Others not on this list—please contact us

For more information on participation and eligibility please contact Clinical Research Nurse Coordinator Julie Avolio at julie.avolio@sickkids.ca, or CFIT Research Program Manager at CFIT.program@sickkids.ca.

If you are interested in supporting the program financially, please visit the SickKids Foundation.

Learn more about Personalized Medicine:

Learn more about stem cell research: