Thompson Debra A, Jayasundera K Thiran, Alekseev Oleg, Ali Robin R, Amato Alessia, Arshavsky Vadim Y, Audo Isabelle S, Auricchio Alberto, Bainbridge James W B, Banin Eyal, Besirli Cagri G, Birch David G, Branham Kari E, Cideciyan Artur V, Daiger Stephen P, Duncan Jacque L, Fahim Abigail T, Flannery John G, Gattegna Roberto, Heckenlively John R, Héon Elise, Iannaccone Alessandro, Khan Naheed W, Khateb Samer, Klassen Henry J, Leroy Bart P, Marangoni Dario, Michaelides Michel, Musch David C, Pennesi Mark E, Petersen-Jones Simon M, Pierce Eric A, Rao Rajesh C, Sahel José-Alain, Sieving Paul A, Strettoi Enrica, Strong Cameron R, Wubben Thomas J, Yang Paul, Zacks David N
Kellogg Eye Center, Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, MI, USA.
Department of Ophthalmology, Duke University School of Medicine, Durham, NC, USA.
Transl Vis Sci Technol. 2025 Aug 1;14(8):37. doi: 10.1167/tvst.14.8.37.
Over the past decade, efforts focused on developing genetic therapies for inherited retinal diseases have advanced steadily to clinical trials and the development of a treatment, fueling optimism for the potential of precision medicines to provide safe and effective therapies for these rare conditions. Although several ongoing programs remain poised for success, numerous challenges have negatively impacted the ability to obtain regulatory approvals. The present position paper briefly summarizes recent advances and challenges in developing therapeutics for inherited retinal diseases, and presents a set of recommendations for moving the field forward. The priorities identified are discussed in terms of progress made and future needs, focusing on areas including patient support, disease mechanisms, outcome measures, and therapy approvals. A key point is the potential value of restructuring collaborative interactions into broadly resourced enterprises that are comprehensive in scope across critical areas of science, business, and medicine.
在过去十年中,致力于开发遗传性视网膜疾病基因疗法的工作稳步推进至临床试验和治疗方法的研发阶段,这让人们对精准药物为这些罕见病症提供安全有效疗法的潜力充满乐观。尽管有几个正在进行的项目仍有望取得成功,但众多挑战对获得监管批准的能力产生了负面影响。本立场文件简要总结了遗传性视网膜疾病治疗方法开发方面的最新进展和挑战,并提出了一系列推动该领域向前发展的建议。根据已取得的进展和未来需求,讨论了确定的优先事项,重点关注患者支持、疾病机制、结果指标和治疗批准等领域。一个关键点是将合作互动重组为资源广泛的企业的潜在价值,这些企业在科学、商业和医学等关键领域具有全面的覆盖范围。