ORION
Research type
Research Study
Full title
Outcomes Research in Inherited Optic Neuropathies
IRAS ID
316635
Contact name
Patrick Yu Wai Man
Contact email
Sponsor organisation
Cambridge University Hospitals NHS Foundation Trust and the University of Cambridge
Duration of Study in the UK
3 years, 5 months, 29 days
Research summary
Inherited optic neuropathies (IONs) are a group of heritable disorders characterised by optic nerve dysfunction. The most common primary IONs are autosomal dominant optic atrophy (DOA) and Leber hereditary optic neuropathy (LHON). Vision loss from IONs is devastating. At present established treatment options for vision loss from IONs remain limited. In the last 15 years, significant progress has been made in the development of gene therapy techniques for the treatment of inherited disorders. However, to accurately assess the therapeutic efficacy of any treatment, regulatory agencies such as the FDA and EMA require well-controlled trials that use a valid comparison, typically an internal control. Further prospective studies of individuals with inherited optic neuropathies are required, with clearly defined clinical measures and assessment time-points, in order to understand the natural history of these conditions. This is a prospective natural history study in patients aged ≥16 years with a genetically confirmed inherited optic neuropathy. Approximately 40 patients will be recruited with a disease duration of 10 or less years. Participants will have annual study visits for a duration of 3 years (with optional visits at 6 months and 18 months). Study procedures will include: quality of life assessments, vision assessments, imaging and electrophysiology, MRI of the head and blood samples. The aim of this study is to evaluate the rate of change in neuro-ophthalmic outcomes in patients aged ≥16 years with inherited optic neuropathies and disease duration within 10 years of onset of visual loss.
REC name
East Midlands - Nottingham 2 Research Ethics Committee
REC reference
22/EM/0211
Date of REC Opinion
19 Oct 2022
REC opinion
Further Information Favourable Opinion