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Contact the study team using the details below to take part. If there are no contact details below please ask your doctor in the first instance.
Dr
Patrick
Yu Wai Man
py237@cam.ac.uk
Miss
Heather
Biggs
Hb292@medschl.cam.ac.uk
Disorders of optic nerve and visual pathways
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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.
Start dates may differ between countries and research sites. The research team are responsible for keeping the information up-to-date.
The recruitment start and end dates are as follows:
Observational type: Cohort study;
You can take part if:
You may not be able to take part if:
• Unexplained vision loss or optic atrophy without an identified genetic mutation • Presence of any ocular condition in either eye that, in the opinion of the Investigator, could affect study parameters including, but not limited to, disorders that may contribute to retinal ganglion cell degeneration, media opacity that contributes to subnormal visual function or interferences with posterior pole imaging, progressive retinal disorders, retinal disorders limiting central or peripheral visual function, other optic neuropathy or disorders of the optic nerve that limit visual function or disrupt image acquisition or processing • Patient is taking any medication that can or, in the opinion of the Investigator, might cause an optic neuropathy (e.g. amiodarone, tacrolimus, ethambutol, etc.) • Patient has any history of nutritional deficiency or bariatric surgery • Presence of any other significant disease or disorder which, in the opinion of the Investigator, may either put the patient at risk because of participation in the study, or may affect the patient’s ability to participate in the study (including attending regular follow-up visits every 6 months for up to 24 months)
Below are the locations for where you can take part in the trial. Please note that not all sites may be open.
The study is sponsored by CAMBRIDGE UNIVERSITY HOSPITALS NHS FOUNDATION TRUST and funded by NIHR Academy .
Your feedback is important to us. It will help us improve the quality of the study information on this site. Please answer both questions.
Read full details
for Trial ID: CPMS 53943
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