Diagnostic odysseys are common for people with rare diseases. But for Terry Wright, it took 54 years of gastrointestinal pain, lungs clogged with mucus, countless emergency room trips to treat pneumonia, and surgeries to get to the bottom of a disease that should have been clear from the beginning:…
Assessment, documentation, and education regarding cannabis and cannabidiol (CBD) use among cystic fibrosis (CF) patients varies across centers in the U.S., according to a survey of nearly 300 CF healthcare providers. This variability may be related partially to the different laws between U.S. states regarding these controversial substances, the…
SPL84-23, an investigational antisense oligonucleotide (ASO), restored the levels and function of CFTR — the defective protein in cystic fibrosis (CF) — in lab-grown cells from patients carrying a common and disease-causing splicing mutation, a study reported. Based on these positive preclinical findings, SpliSense plans to launch a Phase 1/2…
AllianceRx Walgreens Prime, a specialty and home delivery pharmacy, is partnering with TailorMed, a healthcare technology company, to help lower out-of-pocket prescription costs for specialty pharmacy patients. Medications attained through specialty pharmacies are those used to treat rare and chronic conditions in the U.S., and are often extremely costly. For…
A novel compound that may hold promise for treating the roughly 11% of cases of cystic fibrosis (CF) that are caused by nonsense mutations has been described in a new study. The study, “A small molecule that induces translational readthrough of CFTR nonsense mutations by eRF1…
Proper representation in clinical trials has long been a challenge for minorities with rare diseases like cystic fibrosis (CF), risking — and often leading to — inequities in care and fewer effective treatments for these patients. To this end, members of the CF community, including patients, researchers, physicians, and…
Kaftrio, marketed as Trikafta in the U.S., may be effective in people with cystic fibrosis (CF) who have one F508del mutation plus one other unknown mutation in the disease-causing gene, a study in cells taken from three such patients suggests. The results indicate that the combination therapy, which…
Source water levels of a metal called molybdenum is a significant environmental risk factor for nontuberculous mycobacteria (NTM) infection among people in Colorado with cystic fibrosis (CF), a database study focused on that state reported. NTM infection, caused by Mycobacterium abscessus (M. abscessus), is a difficult-to-treat bacterial infection, and…
Yap and Taz — two proteins involved in lung injury responses and regeneration — suppress the maturation of mucus-producing goblet cells and limit mucus levels in the lungs, according to a study of mice. These findings suggest that promoting Yap/Taz’s activity may be a potential therapeutic approach to limit the…
Nominations are now open for the worldwide 2022 Black Pearl Awards from Eurordis-Rare Diseases Europe. The 12 award categories recognize individual advocates, policy makers, researchers, organizations, and companies who work to make a difference for the global rare disease community. The deadline for nominations is Sept. 10…
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