Improving clinical trial design for inherited retinal diseases: Insights from ASRS 2024
During a presentation at ASRS 2024, Suber Huang MD, MBA, FASRS, Retina Center of Ohio, delivered an impactful presentation on the critical need to improve clinical trial design for inherited retinal diseases (IRD). His talk highlighted both the challenges and potential solutions to advance therapeutic development in this complex and often underserved area of medicine.
Dr Huang emphasized the immense financial burden associated with treating rare diseases, noting that the total cost of IRD in the United States is estimated at $31.8 billion. The small patient populations make it difficult to recruit suitable cohorts for clinical studies, and the high costs and limited return on investment pose significant challenges for pharmaceutical companies.
Despite these challenges, Dr Huang outlined several successes in the field. Hematopoietic stem cell gene therapy has shown promise for inherited blood disorders by correcting defective genes using techniques like CRISPR. In addition, CAR T-cell therapies have become a cornerstone in the treatment of various blood cancers, demonstrating the potential of immuno-oncology to transform cancer care.
However, Dr Huang pointed out several persistent obstacles in clinical trial design. These include the difficulty in targeting tumors without causing adverse effects, the need for long-term functional surveillance against relapse, and the inconsistent regulatory requirements across different countries. Furthermore, the natural history and immunologic response to viral transfection in human trials remain poorly understood, complicating the development of gene therapies.
To address these issues, Dr Huang proposed 5 key recommendations:
- Develop Clear Standards for De-Risking
- Utilize Data from Unpublished Studies
- Leverage Artificial Intelligence
- Screen Patients with AI
- Consider Broader Therapeutic Approaches
Dr Huang’s presentation concluded with a call to action for the adoption of these recommendations to improve clinical trial design. He underscored the potential for AI and collaborative data sharing to revolutionize the development of therapies for rare diseases.
