New registry launched to track gene therapy outcomes in inherited retinal diseases
A novel disease registry, named Fight Inherited Retinal Blindness! (FIRB!), has been developed to monitor the natural history and treatment outcomes of gene therapy in patients with inherited retinal diseases (IRDs).
The initiative involved a core committee of six members overseeing the construction of the FIRB! module, alongside a steering committee of 11 experts. This group focused on establishing disease classifications and identifying key variables to create minimum datasets through a consensus approach.
The FIRB! registry is an online platform that gathers detailed baseline demographic, clinical, and genetic data and follow-up information. To maintain consistency, it utilizes the Human Phenotype Ontology and Monarch Disease Ontology for standardized terminology. Diagnoses within the registry are organized into 7 broad phenotypic categories, each with tailored minimum datasets. Furthermore, it specifies minimum datasets for patients undergoing the approved gene therapy, voretigene neparvovec (Luxturna). New patient entries can be completed in 5 minutes and follow-up data entry in 2 minutes.
Reference
Simunovic MP, Moore AT, Grigg J, et al. The Fight Inherited Retinal Blindness! project: a new treatment outcome and natural history registry for inherited retinal disease. Retina. 2024;doi: 10.1097/IAE.0000000000004296. Epub ahead of print. PMID: 39418576.
