Abstract
The Foundation Fighting Blindness, RDH12 family organizations, and the RDH12 Fund for Sight convened a jointly organized workshop in Columbia, Maryland, on November 19, 2019. The purpose of the workshop was to share perspectives on what is known about the RDH12-associated retinal dystrophies (RDs) and discuss the advancement of therapies, primarily gene therapy, for people with mutations in the RDH12 gene which cause Leber congenital amaurosis 13 (LCA13). The workshop began with presentations on the RDH12 landscape, patient perspectives, the use of statistical modeling for clinical trial design, and the Foundation's My Retina Tracker Registry. An afternoon roundtable discussion focused on four key areas essential to advance research toward gene therapy clinical trials: trial design, dose projection from nonclinical to clinical studies, natural history, and regulatory considerations. In their comments, the 27 participants from academic centers, affected families, biotechnology and pharmaceutical companies, and the regulatory community highlighted a number of research priorities, including the following: systematic inventory of retrospective natural history studies and planning for a multicenter prospective study, development of large animal models, and evaluation of novel tests of functional vision in young children. Despite these research opportunities, the workshop participants agreed that the field could be ready now for a clinical trial aimed initially at testing the safety and, possibly, efficacy of RDH12 gene therapy. Advancements in this field are being fostered by the emergence of an innovative multi-stakeholder research endeavor that relies on the effective engagement of the patients. TRANSLATIONAL RELEVANCE: This initiative serves as a model for how affected individuals and their families can be research partners on the path to treatments and cures.