Fight Inherited Retinal Blindness!

OVERVIEW

Closing the evidence gap in inherited retinal disease

Inherited retinal diseases (IRDs) are the most common cause of blindness registration in children and people of working age, affecting up to 1 in 3,000 people.

Advances in molecular biology and therapeutics over the past three decades have transformed our understanding of how IRDs lead to blindness, and opened the way to active treatment. In 2017 the first gene replacement therapy, voretigene neparvovec, was approved by the US Food and Drug Administration for IRD caused by biallelic mutations in the RPE65 gene.

The module is guided by an international steering committee with expertise in inherited eye and retinal disease, clinical ontology, clinical genetics, electrophysiology, visual psychophysics and vitreoretinal surgery. To keep data consistent across a wide range of conditions, it captures a minimum dataset agreed by the committee, using broad phenotypic groupings based on the Human Phenotype Ontology.

Natural history

With over 300 genes and loci identified to date, there are still big gaps in what we know about how IRDs progress. This affects the prognosis patients and families are given, and can make it harder to assess new therapies in clinical trials.

Real life gene therapy outcomes

Voretigene neparvovec is now registered in multiple jurisdictions, and there is intense interest in how well it works in everyday practice and how long the effect lasts.

Guiding new treatments

Approved gene therapy suits only a small fraction of patients. As new therapies emerge and older ones are re evaluated, FIRB! will help researchers judge the timing of intervention, choose outcome measures and analyse results.