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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.
Purpose And Methods:
A workshop of affected individuals and their families, clinicians, researchers, and industry representatives was convened in March 2023 to define the knowledge landscape of peripherin 2 (PRPH2) biology and identify challenges and opportunities towards developing PRPH2-associated inherited retinal disease (IRD) treatments.
Results:
The results of an online survey and presentations from affected individuals and their family members revealed disease characteristics and impacts on daily living. Scientific sessions highlighted the significant heterogeneity in clinical presentation of PRPH2-related retinopathy; PRPH2's crucial function in rod and cone outer segment formation and maintenance; the usefulness of existing animal and cellular models for understanding disease pathophysiology; and possible therapeutic approaches for autosomal dominant PRPH2-associated IRDs, including gene-specific therapies and gene-agnostic approaches. Priority gaps identified by the workshop included having a more complete understanding of PRPH2's fundamental biology and factors contributing to PRPH2-related disease phenotypic diversity, establishing genotype-phenotype correlations, and creating additional models to probe the functional consequences of PRPH2 variants and to test therapies. Additionally, a natural history study involving a large number of participants is required to more fully characterize PRPH2-related disease progression, aiding in interventional clinical trial design.
Conclusions:
Because PRPH2-associated IRDs are rare, maximizing opportunities for communication and collaboration among stakeholders, such as that provided by the workshop, is crucial to overcome the challenges to developing effective treatments and improve the lives of affected individuals.
Translational Relevance:
Fostering communication among stakeholders to identify knowledge gaps, therapeutic challenges, and potential opportunities toward developing effective treatments for PRPH2-related IRDs.
Insights
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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