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New Lung Cell Type Linked to Cystic Fibrosis Emerges From Mouse, Human Cell Atlas Studies

NEW YORK (GenomeWeb) – Two new studies that used single-cell RNA sequencing to profile tracheal or bronchial tissue from mice or humans have provided a clearer understanding of the relationships between cells in the airway and lungs, while identifying a new cell type that appears to be relevant to cystic fibrosis biology. "The atlas that we've created is already starting to drastically reshape our understanding of airway and lung biology," Aviv Regev, director of the Broad Institute's Klarman Cell Observatory and co-chair of the Human Cell Atlas consortium, said in a statement. For one of the new studies, appearing online today in Nature, Regev, co-senior author Jayaraj Rajagopal, and collea

Cystic Fibrosis Further Explained by Rare Cell Type Discovery

Investigators from the Broad Institute of MIT and Harvard and Massachusetts General Hospital (MGH) have discovered a rare cell type in airway tissue that appears to be a key player in the biology of cystic fibrosis. The discovery of the cell, Foxi1+pulmonary ionocyte, establishes the framework for a new cellular narrative for the rare neurodegenerative disease and offers critical insight into the disease’s underlying genetic basis. By explaining the key role of the rare cell in the disease’s biology, investigators provide further insight that can be used to inform the development of targeted cystic fibrosis therapies. "We've uncovered a whole distribution of cell types that seem to be fu

New Gene Therapy Could Treat Cystic Fibrosis With One Dose

A new partnership in the UK will develop a gene therapy for cystic fibrosis that could treat the disease with a single dose. Cystic fibrosis is a genetic disease that causes mucus to build up in a patient’s lungs. As a result, patients suffer from blocked airways and bacterial infections. While treatment advances have increased the life expectancy of patients, most of them only live to the age of 40. Furthermore, there is still no cure for the disease. Now, a set of industry collaborations could help bring a gene therapy developed by the UK Cystic Fibrosis Gene Therapy Consortium into clinical testing. The treatment uses a type of virus called a lentivirus to deliver a healthy copy of a gene

Acebilustat Seen to Prevent Pulmonary Exacerbations in CF Patients in Phase 2b Trial

Topline data from a Phase 2b trial showed that the investigative therapy acebilustat taken once daily can reduce the number and frequency of pulmonary exacerbations in patients with cystic fibrosis (CF). It did not, however, seem to affect patients’ overall lung function. Pulmonary exacerbations — temporary worsening of lung function — are caused by uncontrolled lung inflammation, and these acute episodes can lead to the chronic decline of lung function and a shortened lifespan. Acebilustat is an inhibitor of an enzyme involved in the production of leukotriene B4 (LTB4), a potent signaling molecule that promotes inflammation. The investigational therapy was developed by Celtaxsys to reduce i

Specific Gene Mutation Causes Severe CF in Georgian Jewish Patients, Study Reports

The Q359K/T360K gene mutation, which is commonly found in Jewish patients of Georgian descent, is associated with a particularly severe cystic fibrosis (CF) phenotype, according to researchers. Their study, “The Q359K/T360K mutation causes cystic fibrosis in Georgian Jews,” was published in the Journal of Cystic Fibrosis. Cystic fibrosis is a chronic lung disorder that most frequently affects Caucasians. CF is a genetic disease and develops due to inherited mutations in the CFTR gene, which provides instructions to make the CFTR chloride channel protein. Many mutations have been identified as causing CF, ranging from mild disease to severe phenotypes. The Q359K/T360K mutation has previously

Cystic Fibrosis Treatment Approved for Use in Children Aged 2 to 5 Years

Officials with the FDA have updated the label of lumacaftor/ivacaftor (Orkambi, Vertex Pharmaceuticals), approving the treatment's use in children aged 2 to 5 years old; with this approval, it is now the first drug to treat the underlying cause of cystic fibrosis (CF) in this population, according to a press release. Lumacaftor/ivacaftor is indicated for the treatment of CF in patients who have 2 copies of the F508del-CFTRmutation, the most common genetic form of the disease. The treatment has already been approved for use in patients aged 6 years and older. This approval is based on data from a phase 3 trial involving 60 patients that showed treatment with lumacaftor/ivacaftor was saf

Vertex Pharma (VRTX) Receives European CHMP Positive Opinion for SYMKEVI for People with CF Aged 12

Vertex Pharmaceuticals (Europe) Limited (Nasdaq: VRTX), today announced that the European Medicines Agency’s (EMA) Committee for Medicinal Products for Human Use (CHMP) adopted a positive opinion for SYMKEVI® (tezacaftor/ivacaftor) in a combination regimen with ivacaftor (KALYDECO®) for the treatment of people with cystic fibrosis (CF) aged 12 and older who either have two copies of the F508del mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, or one copy of the F508del mutation and a copy of one of the following 14 mutations in which the CFTR protein shows residual activity: P67L, R117C, L206W, R352Q, A455E, D579G, 711+3A→G, S945L, S977F, R1070W, D1152H, 2789+

Gene Mutations Linked to Other Lung Diseases May Contribute to Bronchiectasis, Study Suggests

Mutations in genes linked to other lung diseases, specifically cystic fibrosis and primary ciliary dyskinesia, may also contribute to bronchiectasis, according to researchers from China. Their study, “Next-generation sequencing for identifying genetic mutations in adults with bronchiectasis,” was published in the Journal of Thoracic Disease. Bronchiectasis is characterized by the enlargement, damage, and scarring of the bronchi — the breathing structures of the lungs — due to defects in the airway defense mechanisms. These include increased mucus production and damage to the tiny hairs (cilia) that line the inside of the airways, leading to a buildup of mucus which promotes bacteria growth.

Vertex Anticipates Completing Enrollment of Phase 3 Trials Testing Triple Combo Therapies

Vertex Pharmaceuticals plans to conclude the enrollment of patients in its Phase 3 programs involving its triple combo therapies to treat cystic fibrosis (CF) in the second half of 2018, the company recently announced in a corporate update. This is earlier than expected for the four Phase 3 trials, which are testing triple combinations of VX-661 (tezacaftor) and Kalydeco (ivacaftor) plus either VX-659 or VX-445, both of which are investigational treatments. Based on this anticipated completion of enrollment, Vertex intends to submit a new drug application to the U.S. Food and Drug Administration for these triple combo therapies by mid-2019. Earlier this year, the company announced the start

CF Babies More Likely to be Born Preterm, Weigh Less, Study Finds

Babies with cystic fibrosis (CF) are more likely to be born preterm — less than 37 weeks of pregnancy — and have significantly lower birth weight, according to a large study from Denmark and Wales. The study “Impact of cystic fibrosis on birthweight: a population based study of children in Denmark and Wales” was published in the journal Thorax. CF can cause a nutrition deficit due to malabsorption of food, which results in poor growth during infancy and childhood. However, the effect of CF on intrauterine (in the uterus) growth is unclear. Researchers from Wales and Denmark collected data from their respective national registries about children born with CF to analyze the effect of the disea

Arcturus’ RNA Therapy for CF Shows Promise in Preclinical Studies, Company Announces

Arcturus Therapeutics’ RNA-based approach enables the production of healthy CFTR— the protein whose dysfunction is key in cystic fibrosis (CF) — and can be effectively delivered into lung cells, according to the company’s preclinical results. This CF treatment candidate is being developed in collaboration with Cystic Fibrosis Foundation Therapeutics, the drug discovery and development affiliate of the Cystic Fibrosis Foundation. CF is caused by mutations in the CFTR gene, leading to the malfunction of the CFTR protein. This results in the production of thick, sticky mucus in the lungs, pancreas, liver, and intestine, among other symptoms. San Diego-based Arcturus is using its LUNAR lipid (fa

AIT’s Inhaled Nitric Oxide Shows Potential in Fighting Bacterial Infection Prevalent in CF Patients

Inhaled nitric oxide (NO) was shown to be an effective antibacterial agent against Mycobacterium abscessus infection in preclinical studies, as well as in a pilot clinical trial, according to AIT Therapeutics. The company discussed the latest data on its NO product in two poster presentations during the 3rd Annual World Bronchiectasis Conference held recently at Georgetown University in Washington, D.C. NO is a small molecule that is an important mediator of immune defense mechanisms against infections. The compound has been shown to have broad-spectrum antibacterial activity against several strains of bacteria that often infect patients with underlying lung diseases, including cystic fibros

Cystic Fibrosis: Antioxidant-Enriched MVI May Decrease Respiratory Illnesses Interview with: Scott D Sagel MD PhD Professor of Pediatrics University of Colorado School of Medicine Aurora, Colorado What is the background for this study? Response: Inflammation is an important feature of cystic fibrosis (CF) lung disease and contributes to lung damage and lung function decline in CF. We need safe and effective anti-inflammatory treatments in CF. Anti-oxidant therapy has been an area of promise, but with mixed results in CF. This clinical trial, conducted at 15 CF centers affiliated with the cystic fibrosis Foundation Therapeutics Development Network, enrolled 73 patients who were 10 years and older (average age 22 years), with

New Method to Deliver Bacteria-killing Viruses Seen to Resolve Lung Infections in CF Mice

A new therapy which is administered directly into the lung of viruses can kill bacteria, and was shown to be effective in reducing Pseudomonas aeruginosa infection and associated inflammation in a mouse model of cystic fibrosis (CF). This new strategy may pave the way for future treatments of hospital-acquired lung infections and CF-associated infections, according to researchers at Georgia Institute of Technology. The discovery was described in the study, “Inhaled bacteriophage-loaded polymeric microparticles ameliorate acute lung infections,” published in the journal Nature Biomedical Engineering. Bacteriophages, which are viruses that specifically target and kill bacteria, have been viewe

Harmful Bacteria Replace Beneficial Ones in Gut of CF Patients, Study Finds

Cystic fibrosis (CF) patients have a higher amount of harmful gut bacteria and increased levels of intestinal inflammation than healthy people, according to researchers. Their study, “Altered intestinal microbiota composition, antibiotic therapy and intestinal inflammation in children and adolescents with cystic fibrosis,” was published in the journal PLOS One. CF predominantly affects the lungs, but it can also cause gastrointestinal complications. The CFTR protein defect (the cause of CF) is abundant in the gastrointestinal tract of patients and affects the normal structure of the intestine. This defect could influence the diversity of the bacteria present in the gut (also called the gut m

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