{"id":2962,"date":"2025-12-03T15:19:49","date_gmt":"2025-12-03T15:19:49","guid":{"rendered":"https:\/\/usheritalia.it\/event\/workshop-outcome-meausures-for-gene-therapy\/"},"modified":"2026-01-20T11:24:00","modified_gmt":"2026-01-20T11:24:00","slug":"workshop-outcome-meausures-for-gene-therapy","status":"publish","type":"tribe_events","link":"https:\/\/usheritalia.it\/en\/event\/workshop-outcome-meausures-for-gene-therapy\/","title":{"rendered":"Workshop Outcome Meausures for Gene Therapy"},"content":{"rendered":"

The “Workshop Outcome Measures for Gene Therapy<\/strong>” event, held on December 3, 2025, at the Bambino Ges\u00f9 Children’s Hospital in Rome, brought together international clinicians and researchers to discuss the state of the art of gene therapies for inherited retinal diseases and the best metrics for assessing their efficacy.<\/p>\n

USHER Italia A.P.S. was invited to participate as a representative of those interested in gene therapies for retinal diseases, particularly retinitis pigmentosa.<\/p>\n

In the introductory session, M. Raponi and L. Buzzonetti opened the proceedings with “Introductory remarks on rare eye diseases,” outlining the clinical and epidemiological burden of rare eye diseases and the need for dedicated pathways.<\/p>\n

Rizzo and H. Dolfuss then presented “New therapeutic approaches in IRDs and the role of ERN EYE,” presenting the development of gene therapies and the role of European reference networks in coordinating research and access to treatments.<\/p>\n

In the first part of the morning session, coordinated by G. Iarossi and Prof. H. Dolfuss, two general topics were discussed: \u201cGene therapy in some specific IRDs: where are we now?\u201d and \u201cAnalysis of IRD clinical trial experience: what was missing?\u201d, with a critical analysis of the trial results and the gaps in the outcomes used so far.<\/p>\n

A.P. Salvetti presented a presentation on “Diagnostic approaches and endpoints for IRD clinical trials,” examining retinal imaging, functional measures, and outcome criteria currently used or proposed for future studies.<\/p>\n

The following topics were then discussed:<\/p>\n

– an update on therapies for RPGR, illustrating clinical experiences and the critical issues in choosing the most sensitive functional endpoints (A.P. Salvetti),<\/p>\n

– “X-linked Retinoschisis,” focusing on the preliminary results of gene therapy trials and the challenges of study design in a disease with a variable phenotype (P. Sieving),<\/p>\n

– “RPE65\/USH1B<\/strong>,” reporting on experience with already approved therapies and efficacy and safety data collected in registries and long-term follow-ups (F. Testa<\/strong>),<\/p>\n

– “CEP290\/USH2A<\/strong>“, analyzing gene editing and antisense approaches and the prospects for forms of the disease currently without an approved treatment (B. Leroy<\/strong>),<\/p>\n

– “RP11<\/strong>“, describing the experimental strategies and structural and functional endpoints considered in the protocols under development (J. Prener Holtan<\/strong>),<\/p>\n

– “Gene agnostic approaches,” i.e., strategies not linked to a single gene (e.g., neuroprotective or optogenetic therapies) and the related difficulties in defining shared outcomes (I. Audo).<\/p>\n

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The afternoon session was chaired by B. Falsini and G. Iarossi.<\/p>\n

The focus shifted to “Clinical vision testing (electrophysiology, psychophysics, multimodal imaging): how to select the most appropriate parameters to evaluate therapy efficacy,” with a discussion guided by the available evidence in the literature on structural and functional outcomes in ocular gene therapy trials.<\/p>\n

Sieving, B. Falsini, and G. Iarossi explored the role of “electrophysiology,” illustrating how ERG, evoked potentials, and other techniques can quantify improvements even in the presence of minimal anatomical changes.<\/p>\n

Amato and R. Mastromartino discussed “Psychophysics,” highlighting the usefulness of tests such as light sensitivity thresholds, campimetry, and contrast measurements to detect clinically significant changes from the patient’s perspective.<\/p>\n

A.P. Salvetti, A. Copp\u00e8, and G. Gambini presented “Multimodal imaging,” demonstrating how OCT, autofluorescence, and other combined imaging techniques can correlate structural changes with functional changes in trials.<\/p>\n

Dolfuss presented the “ERN EYE act4red initiative,” a European project aimed at standardizing diagnostic and monitoring pathways in IRDs and defining shared outcomes for multicenter studies.<\/p>\n

Borgonovi presented “Patient and regulatory agency perspectives,” addressing the patient perspective, expectations regarding clinical benefits, and regulatory and health technology assessment aspects related to the evaluation of gene therapies.<\/p>\n

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The final presentation was delivered by our President, Attorney Laura Orsatti, assisted by Vice President, Attorney Sergio Massimiliano Bologna, and Associate Dr. Anna Balletta.<\/p>\n

USHER Italia A.P.S. contributed to the final presentation by bringing the voice of people with Usher Syndrome to the public’s attention, illustrating the Association’s activities, advocacy goals, and research priorities in line with the needs expressed by its members, and highlighting the priority of establishing a network of connections with institutional bodies and those involved in research into potential therapies based on the most recent recommendations on outcomes in ocular gene therapy trials.<\/p>\n

President Laura Orsatti concluded by expressing her hope that people with Usher Syndrome, now experiencing hearing loss and currently receiving treatment as such, and now experiencing vision loss and currently receiving treatment as such, will be treated jointly by doctors specializing in ENT and ophthalmology in every healthcare center they visit, as only this approach can ensure effective and comprehensive care for those with Usher Syndrome<\/strong>.<\/p>\n

Read the article by Dr. Giancarlo Iarossi: The importance of understanding the natural history of Usher Syndrome<\/a><\/p>\n

Check the event program: WORKSHOP OUTCOME MEASURES FOR GENE THERAPY<\/a><\/p>\n

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