Clinical trials

Inherited retinal diseases (IRDs) are a group of degenerative disorders that cause progressive vision loss. Retinitis pigmentosa (RP) is the most common form, with a global prevalence of approximately 1 in 4,500. About 20-30% of these cases are syndromic, most notably Usher syndrome (USH), which combines hearing loss with visual impairment. Usher syndrome type 1 (USH1), the most severe form, presents at birth with profound sensorineural hearing loss, vestibular areflexia, and early-onset retinal degeneration. Biallelic mutations in the MYO7A gene, which define the USH1B subtype, account for 70% of USH1 cases. There is currently no treatment available for this serious condition. The objective of the study is to characterize the natural history of retinal degeneration in USH1B patients and to validate functional vision tests using virtual reality and patient-reported outcome questionnaires.

This study explores whether adding early nurse-led and psychological support after the diagnosis of retinitis pigmentosa (RP) can improve patient experience and emotional well-being. RP is a rare, progressive eye disease often diagnosed after a long and difficult process, and receiving the diagnosis can be emotionally distressing. Eighty newly diagnosed adults will be randomly assigned to either usual care or an enhanced pathway that includes early follow-up with a nurse, structured emotional monitoring, and a psychologist visit at six months. The study aims to determine if this structured support improves patient satisfaction and reduces anxiety and depression compared with standard care.

Knowledge of the pathogenesis of ocular conditions, a leading cause of blindness, has benefited greatly from recent advances in ophthalmic imaging. However, current clinical imaging systems are limited in resolution, speed, or access to certain structures of the eye. The use of a high-resolution imaging system improves the resolution of ophthalmoscopes by several orders of magnitude, allowing the visualization of many microstructures of the eye: photoreceptors, vessels, nerve bundles in the retina, cells and nerves in the cornea. The use of a high-speed acquisition imaging system makes it possible to detect functional measurements such as the speed of blood flow. The combination of data from multiple imaging systems to obtain multimodal information is of great importance for improving the understanding of structural changes in the eye during a disease. The purpose of this project is to observe structures that are not detectable with routinely used systems.

Oculometry is becoming increasingly popular in fields such as enhanced reality and healthcare, but remains limited by complex devices that are poorly adapted to the needs of users, particularly the visually impaired. This research proposes to explore a smart contact lens (SCL)-based system to overcome these limitations, particularly for people with central visual deficits such as Stargardt's disease.

Describe the progression of inflammatory orbitopathy and the biological progression of patients receiving second-line treatment (immunosuppressants, radiotherapy, or biotherapy).

Prospective, longitudinal, interventional, exploratory, non-randomized, single-center study including patients with pathological myopia .

Prospective, interventional, non-randomized, open-label study, multi-center, Gehan-designed study with sequential inclusions in each subgroup, ranging from 4 subjects to a maximum 37 subjects per subgroup included

Understanding the pathogenesis of eye diseases has benefited greatly from recent advances in ophthalmic imaging. However, current clinical imaging systems, such as optical coherence tomography (OCT), are limited in terms of resolution, acquisition speed or access to certain eye functions. Our team has participated in the development of a new generation of imaging technology known as optical transmission tomography (OTT), which enables imaging of the anterior parts of the eye with high cellular resolution, a wide field of view and reduced examination delay.

The complex and variable course of age-related diseases makes it all the more necessary to carry out personalised, reasoning-based examinations to improve the personalised assessment and management of AMD. However, functional assessment of AMD is most often based solely on visual acuity, and classifications of AMD are based solely on structural markers. There is therefore a need to improve the detection and functional assessment of this vision-threatening eye disease, by complementing and extending the standard assessments of clinical outcomes (COA)

prospective, cohort, longitudinal, multicenter, non-randomized study of patients with non-infectious posterior segment uveitis or panuveitis, with a group of control patients (scheduled for cataract or vitreoretinal surgery) and constitution of biological collection.

The prevalence of myopia and severe myopia are increasing and will affect 50% and 10% of the population respectively. Severe myopia exposes an increased risk of glaucoma, cataract, retinal detachment and myopic maculopathy, a source of visual impairment. To date, no European cohort study has been conducted to estimate the rate of these complications and to study the predictive parameters.

The impact of glaucomatous optic neuropathy on the daily life of patients is poorly characterized and does not benefit from standardized tests. The development and validation of new tests could be used to assess the efficacy of innovative treatments for visually impaired patients and/or optimize management strategies.

Clinical centres in the LIGHT4DEAF consortium have developed and will continue to improve a reliable, early molecular diagnosis and protocols for full clinical characterisation of Usher syndrome, which will be valuable for the foreseen USH clinical trials. The clinical arm of the project aims at performing a deep-phenotyping of retinal degeneration, hearing loss, vestibular dysfunction, neurocognitive ability of subects with a molecular diagnosis of any Usher syndrome. Functional and structural parameters for retinal, auditory, and vestibular impairments are followed overtime to document the natural history of the disease and establish relevant clinical endpoint for disease progression that may be useful for future clinical trials.