From target discovery to clinical drug development with human genetics
The substantial investments in human genetics and genomics made over the past three
decades were anticipated to result in many innovative therapies. Here we investigate the …
decades were anticipated to result in many innovative therapies. Here we investigate the …
The future of cystic fibrosis care: a global perspective
Executive summary The past six decades have seen remarkable improvements in health
outcomes for people with cystic fibrosis, which was once a fatal disease of infants and young …
outcomes for people with cystic fibrosis, which was once a fatal disease of infants and young …
Pharmacologic improvement of CFTR function rapidly decreases sputum pathogen density, but lung infections generally persist
DP Nichols, SJ Morgan, M Skalland… - The Journal of …, 2023 - Am Soc Clin Investig
Background Lung infections are among the most consequential manifestations of cystic
fibrosis (CF) and are associated with reduced lung function and shortened survival. Drugs …
fibrosis (CF) and are associated with reduced lung function and shortened survival. Drugs …
Clinical effectiveness of elexacaftor/tezacaftor/ivacaftor in people with cystic fibrosis: a clinical trial
DP Nichols, AC Paynter, SL Heltshe… - American journal of …, 2022 - atsjournals.org
Rationale: The cystic fibrosis (CF) modulator drug, elexacaftor/tezacaftor/ivacaftor (ETI),
proved highly effective in controlled clinical trials for individuals with at least one F508del …
proved highly effective in controlled clinical trials for individuals with at least one F508del …
Efficacy and safety of the elexacaftor plus tezacaftor plus ivacaftor combination regimen in people with cystic fibrosis homozygous for the F508del mutation: a double …
Background Cystic fibrosis transmembrane conductance regulator (CFTR) modulators
correct the basic defect caused by CFTR mutations. Improvements in health outcomes have …
correct the basic defect caused by CFTR mutations. Improvements in health outcomes have …
[HTML][HTML] Triple Therapy for Cystic Fibrosis Phe508del–Gating and –Residual Function Genotypes
PJ Barry, MA Mall, A Álvarez, C Colombo… - … England Journal of …, 2021 - Mass Medical Soc
Background Elexacaftor–tezacaftor–ivacaftor is a small-molecule cystic fibrosis
transmembrane conductance regulator (CFTR) modulator regimen shown to be efficacious …
transmembrane conductance regulator (CFTR) modulator regimen shown to be efficacious …
Physiology and pathophysiology of human airway mucus
The mucus clearance system is the dominant mechanical host defense system of the human
lung. Mucus is cleared from the lung by cilia and airflow, including both two-phase gas-liquid …
lung. Mucus is cleared from the lung by cilia and airflow, including both two-phase gas-liquid …
CFTR modulators: the changing face of cystic fibrosis in the era of precision medicine
M Lopes-Pacheco - Frontiers in pharmacology, 2020 - frontiersin.org
Cystic fibrosis (CF) is a lethal inherited disease caused by mutations in the CF
transmembrane conductance regulator (CFTR) gene, which result in impairment of CFTR …
transmembrane conductance regulator (CFTR) gene, which result in impairment of CFTR …
Future therapies for cystic fibrosis
We are currently witnessing transformative change for people with cystic fibrosis with the
introduction of small molecule, mutation-specific drugs capable of restoring function of the …
introduction of small molecule, mutation-specific drugs capable of restoring function of the …
A Phase 3 Open-Label Study of Elexacaftor/Tezacaftor/Ivacaftor in Children 6 through 11 Years of Age with Cystic Fibrosis and at Least One F508del Allele
ET Zemanick, JL Taylor-Cousar, J Davies… - American journal of …, 2021 - atsjournals.org
Rationale: Elexacaftor/tezacaftor/ivacaftor (ELX/TEZ/IVA) was shown to be efficacious and
safe in patients≥ 12 years of age with cystic fibrosis and at least one F508del-CFTR (cystic …
safe in patients≥ 12 years of age with cystic fibrosis and at least one F508del-CFTR (cystic …