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People with CF with rare mutations
This project aims to evaluate the efficacy and safety of different drugs (CFTR modulators and others) in people with CF and rare mutations based on intestinal organoid response.
Upon stimulation with tezakaftor/ivakaftor (Symkevi), HIT-CF ID organoids show a greater or lesser swelling response than the swelling response that accompanies an individual with the homozygous F508del mutation, i.e., F508del/F508del.
How to interpret the results of this research project?
Organoid inflammation in a person with the homozygous F508del mutation (control person) is taken as a reference.
If the response is superior to that of the control person, it means that the person with the rare mutation is likely to benefit clinically from current CFTR protein modulator combination therapies (tezacaftor/ivacaftor – Symkevi or tezacaftor/ivacaftor/elexacaftor – Kaftrio). In this case, the response may be equal to or even better than the Symkevi response in people with the homozygous F508del mutation.
If the response is inferior to that of the control person and is not expected to benefit from tezacaftor/ivacaftor (Symkevi) in a manner comparable to that of the control person, this does not exclude her from clinical efficacy of the treatment, as she could show an effective response with tezacaftor/ivacaftor/elexacaftor (Kaftrio). Therefore, this result should not rule out the person with the rare mutations from experimental treatment with CFTR protein modulators in the future.
You can read the CF-Europe informative bulletin.
Is it necessary to continue physical therapy when taking Kaftrio?
As it is a drug of very recent application, there is still no scientific evidence as to whether or not respiratory physiotherapy should be continued. That said, the application of autogenous drainage has other applications besides the removal of mucus accumulated in the airways, as explained by Ketty Ruiz in an informative capsule.