News

A rare and disease-causing mutation for cystic fibrosis (CF), called the F1099L mutation and characterized by a protein maturation defect, was identified in a recent study. Treatment with lumacaftor was also seen to effectively rescue function of the defective CFTR protein that results from this mutation, found in two infants…

Work targeting new therapies against antibiotic-resistant infections, led by West Virginia University (WVU) researchers, received a $1.4 million grant from a branch of the U.S. Department of Defense (DOD). The grant, awarded by the Defense Threat Reduction Agency, will be used to identify the best combinations of antibodies and…

The Cystic Fibrosis Foundation (CFF) has given Beyond Air up to $2.17 million to test its portable inhaled nitric oxide therapy for people with cystic fibrosis (CF) who have chronic, treatment-resistant lung infections caused by non-tuberculous mycobacteria (NTM). This grant award will support a pilot clinical trial to determine…

Researchers have developed a patient-derived model of cystic fibrosis (CF) to better understand whether these patients are more susceptible to COVID-19 infection and its associated serious complications. The project is being led by Ruobing “Ruby” Wang, MD, who cares for CF patients in the division of pulmonary medicine…

ELX-02 restored the levels and function of CFTR — the defective protein in CF — in “mini-organs,” or organoids, derived from patients carrying the most common CF-causing nonsense mutation, a study shows. “ELX-02 increased CFTR activity in a dose-dependent fashion,” with these functional increases being “similar to those obtained…

The National Institute for Health Research (NIHR) awarded a grant worth more than £1.5 million (about $2.1 million) to support a U.K. clinical trial investigating ways of safely lowering the treatment burden of cystic fibrosis (CF), a top priority for patients and their healthcare teams. The randomized and open-label…

Pharmaxis announced that a first batch of Bronchitol (mannitol), its dry powder and mucus clearing treatment for cystic fibrosis (CF), is on its way to the U.S. from the company’s manufacturing center in Australia. Recently approved by U.S. Food and Drug Administration (FDA) as a maintenance treatment for…

A recent survey shows that people with cystic fibrosis (CF) broadly favor targeted therapy using patient-derived organoids — the three-dimensional organ-like structures made from a patient’s own cells. The finding suggests that this technology might be integrated successfully into healthcare systems. The study, “Avatar acceptability: views…

Endoscopic sinus surgery led to better lung function in people with moderate or severe cystic fibrosis (CF) — and some with mild disease — with benefits sustained one year after surgery, a medical records review found. 

Scores of virtual events are afoot around the world to mark Rare Disease Day 2021 on Feb. 28. The activities are focused on heightening awareness about rare diseases and the hundreds of millions of individuals they are thought to affect. Patients, caregivers, and advocates worldwide will sport denim ribbons…