News

A newly launched non-profit institute is seeking to advance research, and the development of new therapies, for people with rare diseases — a patient community with some of the largest therapeutic needs, but one that is often left behind. Named the Institute for Life Changing Medicines, the project was…

A nonprofit’s entry in the Philadelphia Marathon, Team EE is looking for enthusiastic people to join it for the November race that will help to raise funds for the 10% of people whose cystic fibrosis (CF) is caused by nonsense mutations. As a member of the Emily’s Entourage marathon…

The COVID‐19 pandemic increased socioeconomic instability among people with cystic fibrosis (CF), mostly in terms of employment and ability to afford food, according to data from a single-center U.S. study. Notably, patients who were employed prior to the pandemic appeared to be the most affected, reporting job loss and concerns…

Increasing the levels of the SFPQ protein helped to restore expression and function of the CFTR protein in cells with a F508del mutation in the CFTR gene, the most common cause of cystic fibrosis (CF). Work also showed that SFPQ levels were unusually low in these cells, suggesting this protein “may play…

A new study is seeking to understand whether and how the symptoms of cystic fibrosis (CF) are affected by the menstrual cycle. To that end, CF patients ages 18 to 45, who have regular monthly periods, are being sought to participate in the aptly named MENSTRUAL study —…

The U.S. Food and Drug Administration (FDA) has given fast track designation to ELX-02, an investigational treatment for people with cystic fibrosis (CF) caused by nonsense mutations. This FDA designation aims to speed the development and regulatory review of potential treatments for serious or life-threatening diseases with an unmet medical…

Differences in Psl, a complex sugar molecule produced by Pseudomonas aeruginosa, contribute to the bacterium’s resistance against the antibiotic tobramycin in children with cystic fibrosis (CF), a study shows. While tobramycin-resistant P. aeruginosa produced similar levels of Psl to those that were effectively eradicated with the antibiotic, its Psl molecules…

Participation in clinical trials exposes rare disease patients to financial, physical, and emotional pressures, according to the results of a patient focus group series. “Rare disease trial participants are running an endurance race they are highly motivated to complete, but these incremental burdens negatively impact their ability or willingness to…

The Centers for Medicare and Medicaid Services (CMS) has published a local coverage determination confirming that Relizorb — an enzyme cartridge to help in digestion for cystic fibrosis (CF) patients receiving their nutrition through enteral feeding — will be covered by Medicare.

Blacks and Hispanics with cystic fibrosis (CF) have worse lung function than white patients, according to a study from New York City. However, no differences were found among these groups of patients in several other parameters, including the number of visits to the doctor, treatments with antibiotics, and hospitalizations. The…