​​​Clinical research complements translational projects and are aimed at closing important clinical gaps. 

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EyeConic study

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Optogenetics is a highly promising novel therapeutic approach, that targets light sensitive proteins to certain cell types in the retina, in order to reactivate them. A recent study showed that a blind patient, who received an injection with an adeno-associated viral vector (AAV) carrying an optogenetic protein, regained some vision. This suggests that restoring vision in advanced forms of retinal degeneration using optogenetics is possible. This approach expressed the optogenetic channel in ganglion cells, the axons of which form the optic nerve. It would be more ideal to express the optogenetic channel in cone photoreceptors, because: (1) cones are natural light sensors, and (2) the organization of cones in the retina would allow for correct image formation. Re-sensitizing cones in blind mice led to restoration of retinal light responses and retinal information processing, which translated to detectable visual acuity and visually-guided behavior3. However, until recently, targeting human cones with optogenetic channels has not been possible. We recently developed a cone-targeting AAV vector that restored retinal light responses and visual computations in the human and primate retina. This gene therapy program is being brought forward to clinical development to restore vision in blind patients.

            However, little is known about the biology of preserved cones in blind humans. Post-mortem histology analysis4–6 and case series using ocular imaging demonstrated the presence of targetable cones in some blind patients. To analyze cone presence in a larger population, we launched a world-wide, cross-sectional ocular imaging study (EyeConic-IRD, NCT05294978, https://eyeconic.iob.ch/), where we already collected data from 434 eyes from 286 IRD patients. Importantly, 61% of the eyes of EyeConic-IRD subjects were above the foveal preservation threshold suggesting that cone-targeted optogenetics might be appropriate for 2/3 of the patients.

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