Authors' recommendations: Inherited retinal dystrophies are a group of eye diseases caused by one or more abnormal genes (or 'mutations'). These diseases all eventually lead to blindness, and at the moment there is no treatment that either slows this down or improves sight after it has been lost. Mutations in the RPE65 gene is one cause of inherited retinal dystrophies, particularly a condition called Leber's congenital amaurosis, which leads to blindness in childhood. SPK-RPE65 is a gene therapy that could treat mutations in the RPE65 gene, and may improve the sight of people with an inherited retinal dystrophy caused by these mutations. SPK-RPE65 is injected directly into the eye by a surgeon. SPK-RPE65 is currently being studied to see how well it works and whether it is safe to use. If SPK-RPE65 is licensed for use in the UK, it will be the first treatment available for people with this type of inherited retinal dystrophy.

Project Status: Completed

Year Published: 2016

URL for published report: http://www.hsric.nihr.ac.uk/topics/spk-rpe65-gene-therapy-for-inherited-retinal-dystrophies-due-to-mutations-in-the-rpe65-gene/

English language abstract: An English language summary is available

Publication Type: Not Assigned

Country: England, United Kingdom

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)