Jump to Section
- Comprehensive Research Portfolio Overview
- Strategy 1: Drive research that establishes clinically meaningful IRD endpoints.
- Strategy 2: Drive research for late-stage disease therapies.
- Strategy 3: Drive research to mitigate immunological triggers in disease and treatments.
- Strategy 4: Drive research that explores and understands IRD genes and variants across diverse populations.
- Strategy 5: Drive research to develop better models of IRD and AMD diseases.
- Strategy 6: Drive research for specific, targeted disease-causing genes.
Comprehensive Research Portfolio
After a review by our Scientific Advisory Board (SAB), three key research gaps were identified: models to study retinal diseases, understanding how the immune system reacts, and finding biomarkers that can predict disease progression and help guide treatment decisions. A fourth gap, highlighted by our genetics team, focuses on improving diversity in research to create more inclusive treatment options for everyone.
Strategy 1: Drive research that establishes clinically meaningful IRD endpoints.
A major gap continues to be the lack of global alignment between patients, industry, and regulators on meaningful endpoints for IRD and dry AMD clinical trials. Specifically, we lack endpoints that connect functional and structural vision changes over time and in response to therapeutics. The challenges result from our target patient populations in relevant clinical trials may exhibit highly variable phenotypes, disease progression rates, and phenotype-genotype correlations between and among groups. Our priority is to fund research and clinical studies in this area that include leveraging clinical activity within the RD Fund portfolio.
Strategy 2: Drive research for late-stage disease therapies.
Emerging treatments for inherited retinal disease using gene replacement and gene editing, as well as small molecule therapies to slow disease progression, do not benefit individuals with severe vision loss in the late stage of disease. Our priority is to fund research to advance therapies for patients in this subpopulation. For example, it is notable that the median age of MRTR patients affected with an IRD is 56 years.
Strategy 3: Drive research to mitigate immunological triggers in disease and treatments.
There have been advances in understanding the immune response to gene therapy vehicles, but ways to combat inflammation when it surfaces post treatment with cell and gene therapy approaches are limited. Our priority is to fund research and development in this area.
Strategy 4: Drive research that explores and understands IRD genes and variants across diverse populations.
The predominant inclusion of individuals from mostly European ancestry in IRD gene identification efforts has limited the utility of IRD gene panels for individuals from non-European ancestry. Our priority is to fund research and development of tools in this area.
Strategy 5: Drive research to develop better models of IRD and AMD diseases.
The lack of cellular and/or animal models that accurately reflect human disease pathology remains a critical gap for the translation of preclinical studies to humans. Our priority is to fund research and development in this area.
