The Fight Inherited Retinal Blindness! Project
Year: 2024
Type: article
Abstract: PURPOSE: To design and build a new disease registry to track the natural history and outcomes of approved gene therapy in patients with inherited retinal diseases. METHODS: A core committee of six members was convened to oversee the construction of the Fight Inherited Retinal Blindness! module. A further 11 experts formed a steering committee, which discussed disease classification and variables to form minimum datasets using a consensus approach. RESULTS: The web-based Fight Inherited Retinal Blindness! registry records baseline demographic, clinical, and genetic data together with follow-up data. The Human Phenotype Ontology and Monarch Disease Ontology nomenclature were incorporated within the Fight Inherited Retinal Blindness! architecture to standardize nomenclature. The registry software assigns individual diagnoses to one of seven broad phenotypic groups, with minimum datasets dependent on the broad phenotypic group. In addition, minimum datasets were agreed on for patients undergoing approved gene therapy with voretigene neparvovec (Luxturna). New patient entries can be completed in 5 minutes, and follow-up data can be entered in 2 minutes. CONCLUSION: Fight Inherited Retinal Blindness! is an organized, web-based system that uses observational study methods to collect uniform data from patients with inherited retinal disease to track natural history and (uniquely) treatment outcomes. It is free to users who have control over their data.
Source: Retina
Authors: Matthew P. Simunovic, Anthony T. Moore, John Grigg, Panagiotis Sergouniotis, Omar A. Mahroo, Andrea Vincent, Mandeep Singh, M. Dominik Fischer, Thomas Edwards, Heather Mack, Michael Hogden, Fred K. Chen, Alex Hewitt, Lauren Ayton, Bart Leroy, Robyn Jamieson, Mark C. Gillies, Daniel Barthelmes
Institutions: University of California, San Francisco, NIHR Moorfields Biomedical Research Centre, University of California San Francisco Medical Center, Moorfields Eye Hospital, University College London, Manchester Royal Eye Hospital, Manchester University NHS Foundation Trust, University of Auckland, Johns Hopkins University, Johns Hopkins Hospital, Centre for Eye Research Australia, Princess Alexandra Hospital, The University of Western Australia, Ghent University Hospital, Children's Hospital at Westmead, University of Zurich, University Hospital Zurich
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: hybrid
OpenAlex ID: W4403508059