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Current and Future Directions in Developing Effective Treatments for PRPH2-Associated Retinal Diseases: A Workshop
Radha Ayyagari1, Shyamanga Borooah1, Todd Durham2
1Shiley Eye Institute, University of California, San Diego, CA, USA.
Translational Vision Science & Technology
|October 9, 2024
Summary
A workshop convened stakeholders to address peripherin 2 (PRPH2)-associated inherited retinal diseases (IRDs). Key findings include understanding PRPH2 biology, identifying therapeutic gaps, and the need for collaboration to develop treatments for PRPH2-related IRDs.
Area of Science:
- Ophthalmology and genetics
- Inherited retinal diseases
- Peripherin 2 (PRPH2) biology
Background:
- Peripherin 2 (PRPH2)-associated inherited retinal diseases (IRDs) are rare and complex.
- Significant heterogeneity exists in clinical presentations and disease progression.
- Understanding PRPH2's function is crucial for developing targeted therapies.
Purpose of the Study:
- To define the knowledge landscape of PRPH2 biology.
- To identify challenges and opportunities in developing treatments for PRPH2-associated IRDs.
- To foster collaboration among patients, clinicians, researchers, and industry.
Main Methods:
- Convened a workshop with diverse stakeholders in March 2023.
- Collected insights through affected individuals' presentations and an online survey.
- Facilitated scientific sessions on PRPH2 pathophysiology and therapeutic strategies.
Main Results:
- PRPH2 is vital for rod and cone outer segment maintenance.
- Existing models are useful but additional ones are needed to study PRPH2 variants.
- Key knowledge gaps include PRPH2 biology, phenotypic diversity, and genotype-phenotype correlations.
- A large-scale natural history study is required for better clinical trial design.
Conclusions:
- Collaboration and communication are essential for advancing PRPH2-associated IRD treatments.
- Addressing identified knowledge and therapeutic gaps will accelerate the development of effective interventions.
- Improving understanding of PRPH2 biology and disease progression is critical for patient benefit.
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