Global prevalence of CFTR variants with respect to their responsiveness to elexacaftor-tezacaftor-ivacaftor
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F25%3A10504252" target="_blank" >RIV/00064203:_____/25:10504252 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/25:10504252
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=4.fecM23xs" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=4.fecM23xs</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.jcf.2025.10.007" target="_blank" >10.1016/j.jcf.2025.10.007</a>
Alternative languages
Result language
angličtina
Original language name
Global prevalence of CFTR variants with respect to their responsiveness to elexacaftor-tezacaftor-ivacaftor
Original language description
BACKGROUND: Elexacaftor-tezacaftor-ivacaftor (ETI) is mostly approved in people with cystic fibrosis (pwCF) with a p.Phe508del CFTR variant. The US Food and Drug Administration (FDA) approved ETI for an additional 177 rare CFTR variants and studies identified 7 non-FDA approved variants also responsive to ETI. The global impact of expanding the ETI label to rare responsive CFTR variants on the number of eligible pwCF is unknown. METHODS: Data were obtained from CF registries and individual CF clinics in countries without registries. Individuals were classified according to five mutually-exclusive categories (1) at least one p.Phe508del variant (2) at least one of the 177 FDA-approved variants (3) at least one non-FDA-approved variant responsive to ETI (4) two variants resulting in no CFTR protein (5) all other variants. The first 3 groups were considered responsive to ETI, group 4 was nonresponsive and group 5 of undetermined responsiveness. RESULTS: Data were obtained from 95,838 pwCF living in 69 countries: 78,566 (82.0 %) had at least one p.Phe508del, 6175 (6.4 %) at least one FDA-approved variants, and 2981 (3.1 %) at least one non-FDA-approved responsive variants. Two variants resulting in no CFTR protein were found in 3574 (3.7 %) and other variant combinations in 4490 (4.7 %). The prevalence of p.Phe508del ranged from 7 % to 98 % in individual countries and expanding the eligibility to responsive non-p.Phe508del variants resulted in greatest eligibility increase in countries with low p.Phe508del prevalence. CONCLUSION: Expanding the label of ETI to rare responsive CFTR variants will make at least 91.5 % of pwCF eligible to this disease-modifying therapy.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30101 - Human genetics
Result continuities
Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2025
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Journal of Cystic Fibrosis
ISSN
1569-1993
e-ISSN
1873-5010
Volume of the periodical
24
Issue of the periodical within the volume
6
Country of publishing house
NL - THE KINGDOM OF THE NETHERLANDS
Number of pages
10
Pages from-to
1017-1026
UT code for WoS article
001633073200002
EID of the result in the Scopus database
2-s2.0-105023412096