Long-awaited cystic fibrosis drug could turn deadly disease into a manageable condition

Thirty years after scientists discovered the defective gene that causes cystic fibrosis, two new trials show a therapy could help 90 percent of patients. The FDA approved the triple drug, Trikafta, five months ahead of its deadline.
Source: Washington Post: To Your Health - Category: Consumer Health News Authors: Source Type: news

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ConclusionThe eastern and the northern provinces have the highest prevalence of CF, with the c.2988+1G>A (3120+1G>A) and c.1418delG (p.Gly473GlufsX54) variants showing the highest distribution in the Saudi CF population, which may reflect the effect of consanguinity within the same tribe. Proper family screening and counseling should be emphasized.
Source: International Journal of Pediatrics and Adolescent Medicine - Category: Pediatrics Source Type: research
ConclusionsThe present protocol based on the entire CFTR gene together with informative SNPs outside and inside the gene can be applied to diagnose all CF mutations at preimplantation stage.
Source: Journal of Assisted Reproduction and Genetics - Category: Reproduction Medicine Source Type: research
(University of California - San Diego) People with cystic fibrosis who carry genetic variants that lowerRNF5 gene expression have more mutant CFTR protein on cell surfaces. Even if the CFTR protein isn't fully functional, it's better than none, and may explain why some with cystic fibrosis are less prone to infection than others.
Source: EurekAlert! - Biology - Category: Biology Source Type: news
ConclusionsFocusing on how to cope with future episodes of hemoptysis and the associated anxiety can be helpful to patients. Proactive communication and sensitivity to patient experience may deepen physician ‐patient rapport, increase self‐efficacy to cope with future episodes and lead to more comprehensive care of hemoptysis.
Source: The Clinical Respiratory Journal - Category: Respiratory Medicine Authors: Tags: BRIEF REPORT Source Type: research
The CF community is currently celebrating the approval of CFTR modulators for individuals with specific CFTR mutations. Once a modulator has been approved by regulators for the treatment of individuals with CF and relatively common CFTR mutations (e.g., G551D or F508del), the community's next challenge is to objectively assess efficacy of that treatment in individuals with CFTR mutations of such rarity that traditional, parallel-group, randomized controlled trials are not feasible. When efficacy is further demonstrated in rare mutation groups, expanding the labels of approved drug to these ultra-orphan subpopulations is es...
Source: Journal of Cystic Fibrosis - Category: Respiratory Medicine Authors: Source Type: research
Bone mineral density (BMD) has been positively associated with lung function in patients diagnosed with respiratory diseases such as chronic obstructive pulmonary disease (COPD) and cystic fibrosis. However, t...
Source: BMC Pulmonary Medicine - Category: Respiratory Medicine Authors: Tags: Research article Source Type: research
Cystic Fibrosis (CF) is an autosomal recessive genetic disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. CFTR is an ATP- and PKA-dependent chloride channel, regulating chloride and bicarbonate ion flux across apical membranes of polarized epithelial cells [1 –3]. To date, over 2000 mutations have been reported in the CFTR gene (CFTR1 database, http://www.genet.sickkids.on.ca). Around 10% of these mutations result in the formation of premature termination codons (PTCs) and prevent synthesis of full length CFTR mRNA and protein.
Source: Journal of Cystic Fibrosis - Category: Respiratory Medicine Authors: Source Type: research
WINTER is the hardest time of year for cystic fibrosis sufferers, a charity has revealed.
Source: Daily Express - Health - Category: Consumer Health News Source Type: news
CONCLUSION: The analysis of the presence of 5T polymporphism in CBAVD patients may add information when predicting the outcome of assisted reproductive techniques. PMID: 31797807 [PubMed - in process]
Source: Archivos Espanoles de Urologia - Category: Urology & Nephrology Tags: Arch Esp Urol Source Type: research
(Burness) Amidst rising hopes for using CRISPR gene editing tools to repair deadly mutations linked to conditions like cystic fibrosis and sickle cell disease, a new study in the Nature journal Communications Biology describes a new innovation that could accelerate this work by rapidly revealing unintended and potentially harmful changes introduced by a gene editing process.
Source: EurekAlert! - Biology - Category: Biology Source Type: news
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