The third annual CF FamilyCon, a free and online event that connects people with cystic fibrosis (CF) and their extended families and friends with one another — and to others — takes place this weekend. This two-day event, supported by the Cystic Fibrosis Foundation, is set for…
News
A combination of two mutations, including one that had never been reported, were found in two Chinese siblings who developed a severe form of cystic fibrosis (CF), according to a case report. The report, “Identification of a Mutation in the Novel Compound Heterozygous CFTR in a…
Thousands of people in England with cystic fibrosis (CF) soon will be equipped with digital home spirometry kits. This will allow patients age 6 and older to monitor and share vital lung function information with their physicians without leaving home unnecessarily to make often-lengthy journeys to the hospital. Monitoring…
The European Commission has approved Vertex’s Kalydeco (ivacaftor) for the treatment of children and adolescents with cystic fibrosis (CF) who carry the R117H mutation in the…
The Black Women’s Health Imperative (BWHI) recently created a Rare Disease Diversity Coalition focused on reducing racial disparities in the rare disease community. Getting a timely and accurate diagnosis for a disease that few people — sometimes even physicians — have heard of is challenging on its own merit.
In the seven months since Vertex Pharmaceuticals’ triple-combo therapy Trikafta (elexacaftor/tezacaftor/ivacaftor) hit the market, people with cystic fibrosis, their doctors, and the Cystic Fibrosis Foundation (CFF) have all given the drug high marks for effectiveness. Trikafta, a CFTR modulator, is intended to treat CF patients…
Researchers have reported the case of two siblings with impaired CFTR function due to a deficiency in another chloride channel, called TMEM16A, that do not present symptoms associated with cystic fibrosis (CF). While there is evidence supporting either the activation or the suppression of TMEM16A activity as…
Children with cystic fibrosis (CF) have an altered intestinal virome, or viral communities, compared to healthy children that may impact growth and intestinal inflammation, a case-control study reported. The study, ”The intestinal virome in children with…
Investigational treatment Encala (Lym-X-Sorb) is safe, well tolerated, and increased dietary fat absorption in patients with cystic fibrosis (CF) and pancreatic insufficiency, according to an analysis from a Phase 2 clinical trial. Findings from the analysis were reported in the study, “Improved residual fat malabsorption…
A deputy sheriff’s squad car, lights ablaze and sirens blaring, recently raced to Benjamin Clackum’s house on a sleepy residential street in Lawrenceville, Georgia, but no one was getting arrested. In fact, it was quite the opposite. Clackum was being presented with an AffloVest, a device that would make…
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