WS06.3 High-efficient CFTR modulation does not normalise ß-adrenergic sweat secretion rate in cystic fibrosis patients

Pallenberg, Sophia Theres; Nietert, M.; Minso, Rebecca; Dittrich, A.-M.; Tümmler, B.

doi:10.1016/s1569-1993(21)00947-4

Cited by 1 publication

(1 citation statement)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Triple therapy improved sweat chloride and lung function in pwCF who are homozygous for splice sites mutations affecting the inclusion of introns 18 and 26, respectively (Burgel et al, 2023). We tested two brothers who are compound heterozygous for an acceptor splice site and a donor splice site mutation flanking the same exon (Pallenberg et al, 2023). These index cases normalized CFTR function in the secretory coil of the sweat gland upon exposure to ELX/TEZ/IVA, whereas the respiratory and the intestinal epithelia were only slightly or not responsive to CFTR modulation (Table 2).…”

Section: Exposure Of Elx/tez/iva To Rare Cftr Genotypesmentioning

confidence: 99%

Post-approval studies with the CFTR modulators Elexacaftor-Tezacaftor—Ivacaftor

Tümmler

2023

Front. Pharmacol.

View full text Add to dashboard Cite

Triple combination therapy with the CFTR modulators elexacaftor (ELX), tezacaftor (TEZ) and ivacaftor (IVA) has been qualified as a game changer in cystic fibrosis (CF). We provide an overview of the body of literature on ELX/TEZ/IVA published between November 2019 and February 2023 after approval by the regulators. Recombinant ELX/TEZ/IVA-bound Phe508del CFTR exhibits a wild type conformation in vitro, but in patient’s tissue a CFTR glyoisoform is synthesized that is distinct from the wild type and Phe508del isoforms. ELX/TEZ/IVA therapy improved the quality of life of people with CF in the real-life setting irrespective of their anthropometry and lung function at baseline. ELX/TEZ/IVA improved sinonasal and abdominal disease, lung function and morphology, airway microbiology and the basic defect of impaired epithelial chloride and bicarbonate transport. Pregnancy rates were increasing in women with CF. Side effects of mental status changes deserve particular attention in the future.

show abstract

Section: Exposure Of Elx/tez/iva To Rare Cftr Genotypesmentioning

confidence: 99%

Post-approval studies with the CFTR modulators Elexacaftor-Tezacaftor—Ivacaftor

Tümmler

2023

Front. Pharmacol.

View full text Add to dashboard Cite

show abstract

WS06.3 High-efficient CFTR modulation does not normalise ß-adrenergic sweat secretion rate in cystic fibrosis patients

Cited by 1 publication

References 0 publications

Post-approval studies with the CFTR modulators Elexacaftor-Tezacaftor—Ivacaftor

Post-approval studies with the CFTR modulators Elexacaftor-Tezacaftor—Ivacaftor

Contact Info

Product

Resources

About