The combination of the small molecule ELX-02 and ivacaftor (Kalydeco®) was well tolerated by cystic fibrosis (CF) patients with class I mutations, but failed to achieve efficacy endpoints of a phase 2 trial. Efficacy endpoints included changes from baseline in sweat chloride concentration and percent forced expiratory volume. “We are disappointed that ELX-02 failed to…
A new study has shown that the signal transducer and activator of the transcription 3 (STAT3) gene influences the course of disease in cystic fibrosis (CF) by affecting cystic fibrosis transmembrane conductance regulator (CFTR) protein expression. The study, published in Human Molecular Genetics, found that the inhibition of STAT3 resulted in greater expression of CFTR…
The US Food and Drug Administration (FDA) has approved the use of lumacaftor/ivacaftor (Orkambi®) in children with cystic fibrosis who are aged 12 to 24 months. In a press release from Vertex, the developers of lumacaftor/ivacaftor, chief medical officer Carmen Bozic, MD, said that treating patients at an early age is of great importance, as…
A novel consensus statement on the recommended physical activity in patients with cystic fibrosis (CF) could aid healthcare workers in guiding their patients toward a better quality of life, according to a study recently published in Chronic Respiratory Disease. “This international, multidisciplinary group has highlighted the important role of [physical activity] and exercise in the…
Cystic fibrosis (CF) patients with moderate hepatic impairment should be given a lower dose of the combination therapy elexacaftor/tezacaftor/ivacaftor (Trikafta®), according to a study published in the European Journal of Drug Metabolism and Pharmacokinetics. During the phase 1 study, participants without CF but with moderately reduced liver function had significantly higher levels of the drugs…
Oral health must play a more important role in both management and patient phenotyping in patients with rare genetic diseases such as Alagille syndrome (ALGS), cystic fibrosis (CF), esophageal atresia, and short bowel syndrome, researchers wrote in a study recently published in the Orphanet Journal of Rare Diseases. Several sources define a rare disease as…
Two rare disease patients and a rare disease advocate will be the keynote speakers at the National Organization for Rare Disorders (NORD) 2022 annual rare disease conference, being held at the Marriott Marquis in Washington, DC, on October 17 and 18, 2022. NORD announced the keynote speakers as Brittany Clayborne, MS, PsyD, a post-transplant…
Healthcare professionals often dismiss pain as a debilitating symptom in patients with cystic fibrosis (CF), according to a study recently published in the Journal of Cystic Fibrosis. This observational study included 55 people with CF who completed a questionnaire regarding symptoms based on the Supportive Care Needs Survey Short Form 34, their personal experience with accessing…
When I was a medical student, I remember sitting in during a doctor’s consultation with a patient with amyotrophic lateral sclerosis (ALS). This patient knew very well that the disease would lead to his body slowly being paralyzed until he is no longer able to breathe. Yet, in the midst of such misfortune, the patient…
Researchers have initiated a phase 1 study to assess the safety and pharmacokinetics of intravenous and oral formulations of lefamulin, an antimicrobial agent used to treat patients with acute exacerbations of cystic fibrosis due to Staphylococcus aureus infection. Exacerbations of cystic fibrosis are a constant cause of hospitalization for patients with the disease. One of…
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