Background Cystic fibrosis is a life-limiting disease that is caused by defective or deficient
cystic fibrosis transmembrane conductance regulator (CFTR) protein activity. Phe508del is the …

Abetalipoproteinemia is a human genetic disease that is characterized by a defect in the
assembly or secretion of plasma very low density lipoproteins and chylomicrons. The …

Background Combination treatment with the cystic fibrosis transmembrane conductance
regulator (CFTR) modulators tezacaftor (VX-661) and ivacaftor (VX-770) was designed to target …

Specialised CF care has led to a dramatic improvement in survival in CF: in the last four
decades, well above what was seen in the general population over the same period. With the …

Developments in managing CF continue to drive dramatic improvements in survival. As
newborn screening rolls-out across Europe, CF centres are increasingly caring for cohorts of …

Rationale: Ivacaftor (VX-770), a cystic fibrosis transmembrane conductance regulator (CFTR)
potentiator, has been shown to improve lung function, pulmonary exacerbation rate, …

Background Ivacaftor is used to treat patients with CF and a G551D gating mutation; the
KONNECTION study assessed the efficacy and safety of ivacaftor in patients with CF and a non-…

Background Lumacaftor and ivacaftor combination treatment showed efficacy in patients
aged 12 years or older with cystic fibrosis homozygous for F508del-cystic fibrosis …

Rationale Antibiotic therapy for early Pseudomonas aeruginosa infection in patients with
cystic fibrosis (CF) is effective, but the optimal therapeutic regimen and duration for early …

There is wide agreement on the benefits of NBS for CF in terms of lowered disease severity,
decreased burden of care, and reduced costs. Risks are mainly associated with disclosure …