Identifying and Overcoming Challenges in Developing Effective Treatments for Usher 1B: A Workshop Report.
Identifying and Overcoming Challenges in Developing Effective Treatments for Usher 1B: A Workshop Report.
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DOI：
10.1167/tvst.12.2.2
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发表时间：
2023-02-01
影响因子：
3
通讯作者：
Sahel, Jose-Alai
中科院分区：
文献类型：
--
作者：
Boye, Shannon E.;Durham, Todd;Laster, Amy;Gelfman, Claire M.;Sahel, Jose-Alai
确定 1B 型亚瑟综合征 (USH) 治疗方法开发的挑战和机遇。 2021 年 9 月，抗盲基金会主办了一场由临床医生、学术和行业研究人员、倡导者以及受影响的个人及其家人参加的虚拟研讨会，讨论 USH1B 治疗开发的挑战和机遇。研讨会以受 USH1B 影响的个人的见解开始。演讲主题包括耳和眼中的肌球蛋白VIIA蛋白功能及其在疾病病理学中的作用；迄今为止疾病研究中最常用的 USH1B 小鼠模型面临的挑战；对替代疾病模型的新研究可能提供与人类视网膜中 USH1B 更接近的类似物，包括视网膜类器官和大型动物模型；以及现有疾病自然史数据的教训和局限性。与会者讨论了研究人员和监管机构之间进行公开对话的必要性，以设计 USH1B 临床试验，并采用适当的视力改善结果测量方法，以及视网膜的多模态成像和其他有助于为试验设计提供信息的测试方法。研讨会以演讲和圆桌会议结束，回顾了新兴疗法，包括 USH1B 靶向基因增强疗法和基因不可知方法。像本次研讨会这样的举措对于促进所有利益相关者支持实现治疗和治愈 USH1B 的共同目标非常重要。演讲和讨论的重点是克服疾病建模和临床试验设计挑战，以促进有效 USH1B 治疗的开发、测试和实施。
To identify challenges and opportunities for the development of treatments for Usher syndrome (USH) type 1B. In September 2021, the Foundation Fighting Blindness hosted a virtual workshop of clinicians, academic and industry researchers, advocates, and affected individuals and their families to discuss the challenges and opportunities for USH1B treatment development. The workshop began with insights from individuals affected by USH1B. Presentation topics included myosin VIIA protein function in the ear and eye and its role in disease pathology; challenges with the USH1B mouse model most used in disease research to date; new investigations into alternative disease models that may provide closer analogues to USH1B in the human retina, including retinal organoids and large animal models; and learnings from and limitations of available disease natural history data. Participants discussed the need for an open dialogue between researchers and regulators to design USH1B clinical trials with appropriate outcome measures of vision improvement, along with multimodal imaging of the retina and other testing approaches that can help inform trial designs. The workshop concluded with presentations and a roundtable reviewing emerging treatments, including USH1B-targeted genetic augmentation therapy and gene-agnostic approaches. Initiatives like this workshop are important to foster all stakeholders in support of achieving the shared goal of treating and curing USH1B. Presentations and discussions focused on overcoming disease modeling and clinical trial design challenges to facilitate development, testing, and implementation of effective USH1B treatments.
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DOI：
10.1073/pnas.1130432100
发表时间：
2003-05-27
影响因子：
11.1
作者：
Gibbs, D;Kitamoto, J;Williams, DS
通讯作者：
Williams, DS
影响因子：
4
作者：
El-Amraoui, A;Petit, C
通讯作者：
Petit, C
影响因子：
4.6
作者：
Lefevre, Gaelle;Michel, Vincent;Petit, Christine
通讯作者：
Petit, Christine
影响因子：
3.5
作者：
Adato, A;Michel, V;Petit, C
通讯作者：
Petit, C
DOI：
10.1073/pnas.92.21.9815
发表时间：
1995-10-10
影响因子：
11.1
作者：
HASSON, T;HEINTZELMAN, MB;MOOSEKER, MS
通讯作者：
MOOSEKER, MS