Bart P. Leroy, MD, PhD, on Continuing to Verify Luxturna’s Efficacy

“For example, if you want to think about a patient who told me a story, she said: ‘All of a sudden, Dr. Leroy, I am capable of seeing the slices of bread when I'm preparing the sandwiches for lunch for my son at school with normal lighting conditions—whereas before that I basically touched everything and I didn't really see what I was doing.’ And now she's able to do this. And this was a patient who was 40 when her first eye was treated. So people with considerable evolution of disease already do benefit from this innovative treatment.”

Spark Therapeutics’ voretigene neparvovec (Luxturna) was originally approved by the FDA in December 2017 and by the European Medicines Agency (EMA) in 2018 for the treatment of inherited retinal dystrophy related to mutations in the RPE65 gene.^1,2 It was the first gene therapy to be approved by both the FDA and the EMA for the treatment of a genetic disease.

In the years since Luxturna’s approval, several studies have been initiated to confirm the efficacy of the gene therapy in real world settings. Findings from one such study were presented in a poster entitled “Results of Belgian patients with RPE65-related inherited retinal dystrophy 6 months after treatment with voretigene neparvovec” at the Association for Research in Vision and Ophthalmology (ARVO) 2023 Annual Meeting, held April 23-27, 2023, in New Orleans, Louisiana.³

In an interview with CGTLive™, Bart P. Leroy, MD, PhD, the head of the Department of Ophthalmology at the Center for Medical Genetics, Ghent University Hospital, who co-authored the poster, discussed the motivations behind the study, gave an overview of the methods used, and spoke about the key results. He noted that in treated patients, substantial improvements were observed in full-field sensitivity testing, but that no significant improvements were observed in best corrected visual acuity (BCVA). He emphasized that these results were in line with expectations based on earlier studies, and that they thus support the established efficacy profile of the gene therapy. He also told a story about a specific patient who received treatment with Luxturna in order to illustrate that the changes observed have a meaningful impact on patients’ lives even if the therapy does not improve BCVA.

Click here for more coverage of ARVO 2023.

REFERENCES
1. FDA approves Spark Therapeutics’ LUXTURNA™ (voretigene neparvovec-rzyl), a one-time gene therapy for patients with confirmed biallelic RPE65 mutation-associated retinal dystrophy. News release. Spark Therapeutics. December 19, 2017. Accessed April 26, 2023. https://sparktx.com/press_releases/fda-approves-spark-therapeutics-luxturna-voretigene-neparvovec-rzyl-a-one-time-gene-therapy-for-patients-with-confirmed-biallelic-rpe65-mutation-associated-retinal-dystrophy/

2. European Commission approves Spark Therapeutics’ LUXTURNA® (voretigene neparvovec), a one-time gene therapy for inherited retinal disease caused by confirmed biallelic RPE65 mutations. News release. Spark Therapeutics. November 23, 2018. Accessed April 24, 2023. https://sparktx.com/press_releases/european-commission-approves-spark-therapeutics-luxturna-voretigene-neparvovec-a-one-time-gene-therapy-for-inherited-retinal-disease-caused-by-confirmed-biallelic-rpe65-mutations/

3. Hertens L, Cauwenbergh CV, den Broeck FV, et al. Results of Belgian patients with RPE65-related inherited retinal dystrophy 6 months after treatment with voretigene neparvovec. Presented at: Association for Research in Vision and Ophthalmology (ARVO) 2023 Annual Meeting. April 23-27, 2023; New Orleans, LA. Abstract #762 – C0363