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THE FIGHT INHERITED RETINAL BLINDNESS! PROJECT: A New Treatment Outcome and Natural History Registry for Inherited
Matthew P Simunovic1,2, Anthony T Moore3,4,5, John Grigg1,2
1Save Sight Institute, Sydney Eye Hospital Campus, Sydney, NSW, Australia.
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.
Insights
A new registry, Fight Inherited Retinal Blindness!, tracks gene therapy outcomes in inherited retinal diseases. This system collects uniform data to monitor disease progression and treatment results effectively.
Area of Science:
- Ophthalmology
- Genetics
- Bioinformatics
Background:
- Inherited retinal diseases (IRDs) encompass a group of genetic disorders leading to progressive vision loss.
- Tracking the natural history and treatment outcomes of IRDs is crucial for developing effective therapeutic strategies.
- Gene therapies offer promising treatment avenues for specific IRDs, necessitating robust data collection systems.
Purpose of the Study:
- To design and implement a novel disease registry for monitoring inherited retinal diseases.
- To specifically track the natural history and treatment outcomes of patients receiving approved gene therapies for IRDs.
- To establish a standardized data collection system for inherited retinal diseases.
Main Methods:
- A multidisciplinary committee developed the Fight Inherited Retinal Blindness! registry using a consensus approach.
- The registry employs Human Phenotype Ontology and Monarch Disease Ontology for standardized nomenclature.
- Web-based data entry allows for efficient collection of baseline and follow-up information.
Main Results:
- The Fight Inherited Retinal Blindness! registry is a web-based system for collecting demographic, clinical, and genetic data.
- Standardized nomenclature and phenotypic grouping ensure data uniformity.
- Minimum datasets are defined for broad phenotypic groups and specific gene therapies, including voretigene neparvovec (Luxturna).
- Data entry is streamlined, with new patient entries taking 5 minutes and follow-up data entry taking 2 minutes.
Conclusions:
- Fight Inherited Retinal Blindness! provides an organized system for collecting uniform data on IRDs.
- The registry facilitates the tracking of both natural disease progression and treatment outcomes.
- This free, web-based tool empowers users with data control and supports observational studies in IRD research.
