MedicalResearch.com Interview with:
Stephen R. Russell, MD
Dina J Schrage Professor of Macular Degeneration Research
Service Director, Vitreoretinal Diseases and Surgery
Professor of Ophthalmology and Visual Sciences
The University of Iowa
MedicalResearch.com: What is the background for this study? What are the main findings?
Response: This study examines the efficacy (and safety) of treating children and adults with a form of retinitis pigmentosa known as RPE65-associated Lebers congenital amaurosis, with an adeno-associated viral vector(AAV) delivered RPE65 construct. Building on successful phase 1/2b trials from multiple centers, the AAV-hRPE65v2 agent now designated as voretigene neparvovec, contains a highly optimized enhancing sequence and promoter.
The main findings were an improvement on a multiple light level mobility test (MLMT) and multiple additional supportive secondary endpoints which included improvements in full-field light sensitivity, Goldmann visual field, and others.
MedicalResearch.com: What should clinicians and patients take away from your report?
Response: The outcomes of this trial demonstrate a strong, statistically and clinically significant improvement with gene therapy in this condition.
- First, the study represent a milestone of phase 3 completion by a gene therapy study that met its pre-specified primary and several supportive secondary endpoints.
- Second, the results demonstrate successful improvement of a genetic disease with intervention, rather than a reduction of loss.
- Third, the safety profile suggests that the adeno-associated vector platform demonstrated little to no inflammation when injected into the subretinal space.
MedicalResearch.com: What recommendations do you have for future research as a result of this study?
Response: Combined with another recent publication that suggests that up to 75% of known retinal degeneration-causing genes are small enough to fit into an AAV payload, these results support a targeted approach of additional trials for other inherited retinal diseases (IRDs).
Disclosures: My institution has received grants from the sponsor, Spark Therapeutics. Additionally, I have consulted for Spark.
MedicalResearch.com: Thank you for your contribution to the MedicalResearch.com community.
Russell, Stephen et al. The Lancet , Volume 0 , Issue 0 ,
Note: Content is Not intended as medical advice. Please consult your health care provider regarding your specific medical condition and questions.