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. 2025 Feb 1;45(2):286-295.
doi: 10.1097/IAE.0000000000004296.

THE FIGHT INHERITED RETINAL BLINDNESS! PROJECT: A New Treatment Outcome and Natural History Registry for Inherited Retinal Disease

Matthew P Simunovic  1   2 , Anthony T Moore  3   4   5 , John Grigg  1   2 , Panagiotis Sergouniotis  6 , Omar A Mahroo  4   5 , Andrea Vincent  7 , Mandeep Singh  7 , M Dominik Fischer  8 , Thomas Edwards  9 , Heather Mack  9 , Michael Hogden  10 , Fred K Chen  11 , Alex Hewitt  9 , Lauren Ayton  9 , Bart Leroy  12 , Robyn Jamieson  1   13 , Mark C Gillies  1   2 , Daniel Barthelmes  1   14
Affiliations

THE FIGHT INHERITED RETINAL BLINDNESS! PROJECT: A New Treatment Outcome and Natural History Registry for Inherited Retinal Disease

Matthew P Simunovic et al. Retina. .

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.

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Figures

Fig. 1.
Fig. 1.
Screen grab of the patient detail entry page from the Fight Inherited Retinal Blindness! registry.
Fig. 2.
Fig. 2.
Screengrab of a visit entry page for a patient in the FIRB!.
Fig. 3.
Fig. 3.
Screengrab of a data entry/presentation page for a patient with IRD secondary to biallelic RPE65 mutations after retinal gene therapy with voretigene neparvovec. Pertinent clinical data (e.g., best-corrected visual acuity, FST results) can be plotted against time as a means of easily tracking disease progression and treatment effects.
See this image and copyright information in PMC

References

    1. Simunovic MP, Mack HG, Ayton LN, Hassall MM. Gene Therapy, Diet and Drug Approaches to Treating Inherited Retinal Disease. Reference Module in Biomedical Sciences. Amsterdam: Elsevier; 2021.
    1. Moore AT. Genetic testing for inherited retinal disease. Ophthalmology 2017;124:1254–1255. - PubMed
    1. Georgiou M, Fujinami K, Michaelides M. Inherited retinal diseases: therapeutics, clinical trials and end points-A review. Clin Exp Ophthalmol 2021;49:270–288. - PubMed
    1. Simunovic MP, Grigg JR, Mahroo OA. Vision at the limits: absolute threshold, visual function, and outcomes in clinical trials. Surv Ophthalmol 2022;67:1270–1286. - PubMed
    1. Maguire AM, Russell S, Wellman JA, et al. . Efficacy, safety, and durability of voretigene neparvovec-rzyl in RPE65 mutation-associated inherited retinal dystrophy: results of phase 1 and 3 trials. Ophthalmology 2019;126:1273–1285. - PubMed