RPE65 Natural History Study
Research type
Research Study
Full title
Natural History Study of Patients with Leber Congenital Amaurosis associated with Mutations in RPE65.
IRAS ID
189955
Contact name
Michel Michaelides
Contact email
Sponsor organisation
Athena Vision Ltd
Duration of Study in the UK
5 years, 0 months, 1 days
Research summary
Leber Congenital Amaurosis (LCA) is a diagnosis for a group of severe, inherited retinal dystrophies that typically result in complete visual loss in the patients thirties or forties. One form, LCA2, is caused by a mutation in the gene encoding RPE56, an RPE-specific 65-kDa isomerase. Non-functional RPE65 results in retinal cells that are unable to respond to light resulting in these patients having poor vision.
Clinical trials of gene replacement therapy in RPE65 associated LCA (RPE65-LCA) have shown significant promise. All three clinical trials showed improvement in visual function over the first year, however longer term follow up demonstrated progressive visual loss and that initial improvements were not maintained.
We have revised the gene therapy treatment and optimised its delivery to hopefully provide greater efficacy (Professor Robin Ali and Prof James Bainbridge – unpublished data).
In preparation for human clinical trials we intend to undertake a detailed study into the natural history of RPE65-LCA. We hope that such a study will help identify suitable patients for gene therapy trial. Furthermore, we hope to find an optimal window for intervention and specific measures to help quantify effect and identify clinical end points.
REC name
North West - Preston Research Ethics Committee
REC reference
15/NW/0990
Date of REC Opinion
2 Feb 2016
REC opinion
Further Information Favourable Opinion