Eteplirsen for Duchenne muscular dystrophy in patients amenable to exon 51 skipping
NIHR HSRIC
Record ID 32016000529
English
Authors' recommendations:
Duchenne muscular dystrophy is an inherited condition that causes muscle weakness. It affects mainly boys and is caused by a mutation (a change) in the gene that makes dystrophin. Dystrophin is important for protecting muscles from stress and damage during activity. Most people with Duchenne muscular dystrophy are diagnosed by the age of 5 years, and need to use a wheelchair by the age of 12 years. Many will face severe health problems by their late teens as their heart and chest muscles become weaker, eventually affecting their breathing.
Eteplirsen is designed to "skip" a part of the gene that makes dystrophin called exon 51. For people who have mutations called deletions in certain parts of the dystrophin gene, skipping exon 51 may potentially allow the body to produce a shortened, but still working, form of the dystrophin protein. Eteplirsen is delivered directly into the blood stream via a drip, once a week. At the moment, there are no drugs that treat the underlying problem that causes Duchenne muscular dystrophy.
Eteplirsen is currently being studied to see how well it works and whether it is safe to use in people with Duchenne muscular dystrophy amenable to exon 51 skipping. If eteplirsen is licensed for use in the UK, it will offer a new treatment option for this type of Duchenne muscular dystrophy.
Details
Project Status:
Completed
Year Published:
2016
URL for published report:
http://www.hsric.nihr.ac.uk/topics/eteplirsen-for-duchenne-muscular-dystrophy-in-patients-amenable-to-exon-51-skipping/
English language abstract:
An English language summary is available
Publication Type:
Not Assigned
Country:
England, United Kingdom
MeSH Terms
- Humans
- Dystrophin
- Exons
- Muscular Dystrophy, Duchenne
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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