Patricia Inácio, PhD, science writer —

Babies diagnosed with cystic fibrosis (CF) through newborn bloodspot screening show better lung function, can better stave off infection with Pseudomonas aeruginosa (the most common bacteria found in CF), and have better weight outcomes than those diagnosed clinically later in life, a large CF registry-based study from the…

Treatment with Kalydeco (ivacaftor) alone improved lung function and quality of life in a cystic fibrosis patient carrying both a therapy-responsive and a non-responsive mutation to treatment, a case study reports. The case study, titled “Positive clinical outcomes following ivacaftor treatment in a cystic fibrosis patient with the…

Two new alterations in the CFTR gene, leading to a deficient CFTR protein and consequently causing cystic fibrosis (CF), were identified in two young patients with the disease, according to a study. The study, “Two novel and correlated CF-causing insertions in the (TG)mTn tract of the CFTR gene,”…

The European Medicines Agency (EMA) has validated Vertex Pharmaceuticals’ application seeking approval for its triple combination — elexacaftor (VX-445), plus tezacaftor, and ivacaftor (Kalydeco) — for cystic fibrosis (CF) patients who cannot use other approved CF disease-modifying treatments or don’t benefit from them as intended.

When Vertex Pharmaceuticals’ cystic fibrosis (CF) therapy Trikafta was approved recently by the U.S. Food and Drug Administration, it was a dream come true for Jeffrey Leiden, Vertex’s chairman, president, and CEO. The therapy, which treats the most common mutation in CF patients (the F508del mutation in…

Regular exercise over the long term improves lung function in people with cystic fibrosis (CF) by lowering levels of a pro-inflammatory hormone called adiponectin, a new study suggests. Measuring the levels of adiponectin and another hormone known as leptin could also be useful in monitoring CF progression, the…

The UNITY prenatal test is highly sensitive and accurate for detecting hereditary diseases such as cystic fibrosis (CF), spinal muscular atrophy (SMA), sickle cell disease, and thalassemias, a new study reports. Developed by BillionToOne, the non-invasive test uses maternal blood to detect CF and…

CFTR channel activity is controlled by a molecular process known as phosphorylation. Now, a study suggests that the levels of phosphorylation affect how well Kalydeco works in people with certain mutations in the CFTR gene. The study “VX-770-mediated potentiation of numerous human CFTR disease mutants is influenced by phosphorylation level” was…

Prenatal genetic testing for cystic fibrosis (CF) significantly influences how women manage their pregnancies, with positive tests linked to high rates of pregnancy terminations, a systematic review study finds. The study, “Prenatal genetic testing for cystic fibrosis: a systematic review of clinical effectiveness and an ethics review,” was published…

The U.S. Food and Drug Administration (FDA) has granted priority review to Vertex’s new drug application for its triple combination — elexacaftor (VX-445) plus tezacaftor and Kalydeco (ivacaftor) — for cystic fibrosis (CF) patients who cannot use the company’s other disease-modifying treatments or don’t benefit as intended.