Participate in our study in Milan, Italy!
DO YOU HAVE A RARE EYE DISEASE?
Help us advance research on rare eye conditions!
We are conducting a study to better understand rare eye diseases and potentially contribute to future therapies for conditions like yours. Your participation is valuable and could help many others! For more information or to enrol contact Silvia Palombella at palombella.silvia@hsr.it.
We’re looking for adult volunteers diagnosed with:
– Aniridia-Associated Keratopathy (AKK)
– Ocular Cicatricial Pemphigoid (OCP)
– Ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC)
– Neurotrophic Keratopathy (NK)
– Limbal Stem Cell Deficiency (LSCD)
– Ocular Graft versus Host Disease (oGvHD)
– Corneal Neovascularisation (CNV)
Study Details:
When? Every Tuesday morning (October 2024 – June 2025)
Where? Cornea Unit, San Raffaele Hospital – Milan, Italy
Duration? 2 hours (by appointment)
What will be done during your visit?
– Complete eye visit for free
– Blood sample (no need to fast)
– Tear fluid collection (using a minisponge under your eyelid)
– Impression cytology (with a thin membrane on the eye’s surface for 20 seconds)
You can participate if you:
– Are 18 or older
– Have been diagnosed with one of the 7 rare eye diseases
– Have other conditions like myopia or other non-exclusionary conditions
You CANNOT participate if you:
– Are pregnant or breastfeeding
– Have an ongoing eye infection or corneal perforation
– Had eye surgery in the last 3 months
– Changed your eye medication less than a month ago
Interested in Participating?
Contact Silvia Palombella at palombella.silvia@hsr.it to learn more or enroll.
More about this study
As part of the Restore Vision project, Work Package 2 (WP2) focuses on identifying and validating targets for new and repurposed drugs that may uncover potential treatments for rare eye diseases.
The study aims to analyse key proteins, genes, and biological pathways in tissue and fluid samples collected from patients with rare eye diseases. By comparing these findings to samples from healthy individuals of similar age and gender, researchers hope to pinpoint the molecular targets most relevant for potential therapies.
Initially, statistical analyses will provide insights into the social and clinical characteristics of patients with rare eye diseases helping to uncover patterns and factors linked to disease development. The same approach will then be applied to biological samples, comparing target levels between patients and healthy subjects to identify critical differences. This research aims to shed light on the mechanisms behind rare eye diseases and guide the development of innovative treatments.
Researchers will also analyse protein levels in tears and plasma, as well as gene expression of the drug targets of interest in cells collected from the eye and blood samples. This will help identify any systemic markers or differences in biological targets between REDs patients and healthy individuals.
Who’s involved
Led by Ospedale San Raffaele (OSR) in Milan, Italy, this multicentric study brings together partners from Institut National de la Santé Et de la Recherche Médicale (INSERM) in France, and the University Hospital of Cologne (UKK) in Germany. Recruitment of patients in Italy began in May 2024 after OSR received ethical approval in March 2024. Ethical clearances for other sites are expected soon, allowing them to start enrolling participants.
To ensure high-quality results, the project partners have standardized protocols for collecting biological samples and clinical data during ophthalmology visits. All samples will be stored in the OSR biobank, and analyses will be centralized at OSR’s research lab and the CORIC center at UKK in Germany