News

Registration is now open for the 2021 Rare Diseases and Orphan Products Breakthrough Summit, which will be held virtually Oct. 18–19. The event, also known as the National Organization for Rare Disorders (NORD) Summit, brings the rare disease community together to network and discuss developments in treatments and research…

Andrea Hoffman, an Ohio Northern University (ONU) student who also is a cystic fibrosis (CF) patient and advocate, has been appointed by Ohio Gov. Mike DeWine to the Ohio Rare Disease Advisory Council, according to a university press release. In her two-year term, Hoffman, an ONU junior, will…

Poor bone density is increasingly evident in older cystic fibrosis (CF) patients, and may be linked to an inflammation biomarker known as interleukin 8 (IL-8), a small study in Canada suggests. Bone disorders can affect 24% of adults with CF, the study noted, adding that the Cystic Fibrosis Foundation…

Kaftrio successfully improved lung function and quality of life in three Italian cystic fibrosis (CF) patients who have severe lung disease with an unknown mutation in the CFTR gene in addition to the common F508del mutation, a case series reported. Kaftrio (elexacaftor, tezacaftor, and ivacaftor), sold as Trikafta in the…

Cystic fibrosis transmembrane conductance regulator (CFTR), the protein that is mutated in cystic fibrosis (CF), is not as rigid a structure as previously thought, but rather one that may transition between shapes, a molecular study has found. Under certain conditions — such as the most common CF-causing mutation, F508del…

Depression and anxiety are common among people with cystic fibrosis (CF), a systematic review reports. The study “Global Burden of Anxiety and Depression among Cystic Fibrosis Patient: Systematic Review and Meta-Analysis” was published in the International Journal of Chronic Diseases. In people with CF, a genetic defect…

People with cystic fibrosis (CF) who use opioids to manage pain commonly report being satisfied with the treatment, but also have concerns about the potential for addiction and stigmatization, according to the results of a recent patient survey. The findings highlight “the need for guideline-driven practice standards, including the…

More than 600 people participated in the 10th annual Rare Disease Week on Capitol Hill 2021, held virtually July 14–22, to advocate for the rare disease community. Hosted by the EveryLife Foundation’s Rare Disease Legislative Advocates (RDLA) program, the event brings together community members from across the U.S. to…

Children with cystic fibrosis (CF) who gain less than 2.5 kg (or 5.5 lbs) per year between the ages of five and 10 are nine times more likely to develop cystic fibrosis-related diabetes (CFRD) in adolescence, a new study reports. The findings highlight the need to monitor closely…

The National Organization for Rare Disorders (NORD) is applauding the Biden administration for announcing a rule to protect consumers from surprise medical billing, in a joint statement with 26 other U.S. patient organizations. The interim final rule will implement patient protections required by the No Surprises Act. Surprise…