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Natural history study in autosomal dominant optic atrophy (OPA1 gene)

The main criteria for participation

The study is recruiting, in several countries around the world including France, 40 participants aged 8 years and older, suffering from autosomal dominant optic atrophy linked to a mutation of the OPA1 gene, with corrected visual acuity between 20/40 (70 letters on the ETDRS scale) and 20/160 (39-43 ETDRS letters).

The objective

This is a so-called “observational” study that evaluates the spontaneous progression (natural history) of the disease over time, measuring the structural and functional changes it causes at the visual level. This type of study is essential for understanding the mechanisms of the disease, but also for subsequently evaluating the effects of a drug candidate: it will be considered effective if it modifies the natural history. 

The objective

The study lasts two years. Each participant receives ophthalmological examinations (visual acuity, color vision, contrast sensitivity, optical coherence tomography, etc.) every 3 months during the first year, then every 6 months during the second year.

France has one investigation site, at the Rennes University Hospital

Where are we?

Recruitment has not yet started in France.

Contact :

Dr Xavier Zanlonghi

dr.zanlonghi@gmail.com