Report From the Second Global Scientific Conference on Clinical Trial Design and Outcome Measures for RDH12-Associated Inherited Retinal Degeneration

Abstract

Following the success of the first multi-stakeholder workshop to accelerate the development of treatments for patients with RDH12-associated inherited retinal dystrophies in 2019, the patient organizations Eyes on the Future and the RDH12 Fund for Sight convened a second one day, multi-stakeholder workshop in November 2022, focusing on the challenges in clinical trial design and outcome measure selection for studies involving patients with RDH12-associated inherited retinal disease (IRD). Face to face and virtual participants included representatives from patient organizations, academic and industry clinicians, and scientists, as well as representatives from multiple regulatory agencies. Key areas of discussion focused on RDH12 phenotypic heterogeneity, retinal structural-functional relationships, and the targeting of areas most likely to respond to gene therapies, the need for comprehensive natural history data to inform appropriate outcome measures, and the outcome measures most valued by the patient commu-nity including the lack of validated patient reported outcome measures. Learnings from recent IRD gene therapy trials and their relevance for RDH12-associated IRDs were discussed. Innovative trial designs with outcome measures selected relevant for the RDH12 patient population, adaptive strategies, collaboration among scientists and clini-cians, alignment among regulators, and close engagement with the patient commu-nity can enhance the future feasibility and success of clinical studies for RDH12 retinal dystrophy. Translational Relevance: A multi-stakeholder, patient centric approach will be critical to the design of future successful clinical trials with outcome measures relevant to the RDH12-IRD population.