English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Plus monthly

Global: Zendy Tools annual

Global: Zendy Tools monthly

Global: Zendy Free Plan

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.

Report from a Workshop on Accelerating the Development of Treatments for Inherited Retinal Dystrophies Associated with Mutations in the RDH12 Gene