Researchers have shown that Kaftrio has a beneficial effect in more than 50% of people with cystic fibrosis who do not have the “f508del” mutation.
- Kaftrio/Kalydeco (elexacaftor-tezacaftor-ivacaftor, ETI) is authorised by the European Medicines Agency for the treatment of patients with cystic fibrosis aged 6 years and older who carry at least one F508del mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
- In a new study, Kaftrio had a beneficial effect in more than 50% of people with cystic fibrosis who do not have the f508del mutation.
- Cystic fibrosis is a genetic disease characterized by viscous secretions in the lungs.
According to the association Overcoming Cystic Fibrosisa new study highlights the need to authorise Kaftrio beyond the current MA (marketing authorisation).
“Vaincre la mucoviscidose and Professor Pierre-Régis Burgel had submitted a request to the ANSM to extend the compassionate prescription framework for Kaftrio for patients aged 6 and over who do not carry an f508del mutation”, the institution first explains in a press release. “At the beginning of June 2023, the ANSM granted this request,” she recalls.
Cystic fibrosis: 8 additional mutations responding to Kaftrio
Professor Burgel and his team have just published the full results of the real-life study, carried out with the 47 Cystic Fibrosis Resource and Skills Centers (CRCM). “They confirm the first results which demonstrate that Kaftrio has a beneficial effect for more than 50% of patients who do not have the f508del mutation, the only mutation for which marketing authorisation has been granted in Europe,” indicate members of the non-profit organization.
Furthermore, this study demonstrates that:
– 98% of patients carrying one of the 177 mutations (other than f508del) having been authorized by the Food and Drug Administration (FDA) based on a cell line study are positive responders to the triple therapy elexacaftor-tezacaftor-ivacaftor.
– 8 additional mutations can be considered as responders to Kaftrio and 28 others have been identified as probably responders.
Cystic fibrosis: “the list of responder mutations is very incomplete”
“The number of patients responding to kaftrio and not carrying one of the 177 FDA-approved mutations exceeds the number of responders carrying at least one FDA-approved mutation,” completes the association Overcoming Cystic Fibrosis.
“This study confirms the clinical relevance of the in vitro cell line studies that led to the identification of rare mutations responsive to Kaftrio and the extension of authorization granted by the FDA on the basis of these data,” she continues. “It nevertheless shows that the list of responder mutations identified by these in vitro studies is very incomplete,” she develops.
At the time when European Medicines Agency (EMA) is called upon to rule on Kaftrio’s request for extension concerning more than 180 mutationsthe Vaincre la Mucoviscidose association asks him to take this study into account and to approve the request to extend Kaftrio to all patients likely to respond.
“To ignore this research simply because it is not based on a randomised clinical study would lead to several hundred European patients suffering an inevitable deterioration in their pulmonary function,” activists believe. “For rare diseases, and particularly for patients with ultra-rare mutations for which no clinical study is possible, it is vital that the EMA relies on these studies,” concludes David Fiant, president of the association Vaincre la Mucoviscidose.
How long can you live with cystic fibrosis?
Cystic fibrosis is a genetic disease characterized by viscous secretions in the lungs.
Thanks to advances in research and improved treatment of this disease, the average life expectancy of a patient is now between 40 and 50 years, whereas it was only 5 years in the 1960s.
