Ataluren (Translarna) for CFTR class I nonsense mutation mediated cystic fibrosis

NIHR HSRIC
Record ID 32016000391
English
Authors' objectives: Cystic fibrosis is a long term, life-limiting condition that affects over 10,000 children and adults in the UK. It is an inherited disease caused by a fault (or mutation) on one gene called CFTR. The fault in this gene means that patients with cystic fibrosis have several problems, especially with their lungs and digestive system. Symptoms of cystic fibrosis usually start in early childhood and include persistent coughing, chest and lung infections, and poor weight gain. These problems get worse over time. There is no cure for cystic fibrosis and most treatments try to improve the symptoms of cystic fibrosis, but do not treat the fault in the gene that causes the symptoms. Ataluren is a new drug for the treatment of cystic fibrosis in people who have a certain kind of mutation called a nonsense mutation. Ataluren is a powder that is mixed with water to make a drink that is taken three times every day - in the morning, at midday, and in the evening. Some studies have suggested ataluren may be helpful for people who have a nonsense mutation on the CFTR gene and more studies are now aiming to show how well it works and that it is safe to use. If ataluren is licenced for use in the UK, it will offer a treatment option for patients with cystic fibrosis that have a nonsense mutation on the CFTR gene. If licensed it will be the first drug that is designed treat the fault in the gene in these patients.
Details
Project Status: Completed
Year Published: 2015
URL for published report: http://www.hsric.nihr.ac.uk/topics/ataluren-translarna-for-cftr-class-i-nonsense-mutation-mediated-cystic-fibrosis/
English language abstract: An English language summary is available
Publication Type: Not Assigned
Country: England, United Kingdom
MeSH Terms
  • Humans
  • Codon, Nonsense
  • Cystic Fibrosis
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • Oxadiazoles
Contact
Organisation Name: NIHR Horizon Scanning Centre
Contact Address: The NIHR Horizon Scanning Centre, Department of Public Health, Epidemiology, and Biostatistics, School of Health and Population Sciences, University of Birmingham, 90 Vincent Drive, Edgbaston, Birmingham, B15 2SP. United Kingdom. Tel: +44 121 414 7831, Fax: +44 121 2269
Contact Name: c.packer@bham.ac.uk
Contact Email: c.packer@bham.ac.uk
Copyright: NIHR Horizon Scanning Research&Intelligence Centre (NIHR HSRIC)
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