Real-world outcomes of voretigene neparvovec treatment in pediatric patients with RPE65-associated Leber congenital amaurosis.
Deng Callie, Zhao Peter Y, Branham Kari, Schlegel Dana, Fahim Abigail T, Jayasundera Thiran K, Khan Naheed, Besirli Cagri G
AI Summary
Real-world data on voretigene neparvovec for pediatric RPE65-LCA shows significant, sustained visual function improvements, confirming its safety and efficacy for clinical use.
Abstract
Purpose
To investigate real-world safety and efficacy of voretigene neparvovec gene therapy administration in pediatric patients with biallelic RPE65 disease-causing variants.
Methods
A retrospective study of 27 eyes of 14 patients with RPE65-associated Leber congenital amaurosis examined postoperative complications and longitudinal changes in photoreceptor function following treatment with subretinal injection of voretigene neparvovec. Full-field stimulus threshold testing (FST), Goldmann visual fields (GVF), best-corrected visual acuity (BCVA), and central subfield thickness (CST) on optical coherence tomography (OCT) scans were collected preoperatively and up to 12 months posttreatment.
Results
Baseline through 6-12 month follow-up FST and GVF data were obtained for 13 eyes of 7 patients. FST improved for each eye after treatment with a mean improvement of 2.1 log-units (P < 0.001) and GVF improved for each eye with a mean improvement of 221 sum degrees (P < 0.001). BCVA improved from logMAR 0.98 at baseline to logMAR 0.83 at last follow-up (P < 0.001). Across 19 eyes of 10 patients included in CST analysis, there was a small but statistically significant 9-μ decrease in mean CST from baseline to last follow-up (P < 0.001). The most common postoperative issues included elevation in intraocular pressure (59%), persistent intraocular inflammation (15%), and vitreous opacities (26%) that resolved over a period of months.
Conclusions
This report provides some of the earliest longitudinal real-world evidence of the pediatric safety and efficacy of voretigene neparvovec using multiple functional and structural measures of the retina. Outcomes demonstrate significant improvements in visual function consistent with clinical trial results.
MeSH Terms
Shields Classification
Key Concepts5
Voretigene neparvovec gene therapy administration in pediatric patients with biallelic RPE65 disease-causing variants resulted in a mean improvement of 2.1 log-units in full-field stimulus threshold (FST) for each eye (P < 0.001) from baseline through 6-12 month follow-up.
Voretigene neparvovec gene therapy administration in pediatric patients with biallelic RPE65 disease-causing variants resulted in a mean improvement of 221 sum degrees in Goldmann visual fields (GVF) for each eye (P < 0.001) from baseline through 6-12 month follow-up.
Best-corrected visual acuity (BCVA) improved from logMAR 0.98 at baseline to logMAR 0.83 at last follow-up (P < 0.001) in pediatric patients with biallelic RPE65 disease-causing variants treated with voretigene neparvovec gene therapy.
Voretigene neparvovec gene therapy in pediatric patients with biallelic RPE65 disease-causing variants was associated with a small but statistically significant 9-μ decrease in mean central subfield thickness (CST) from baseline to last follow-up (P < 0.001) across 19 eyes of 10 patients.
The most common postoperative issues following voretigene neparvovec gene therapy administration in pediatric patients with biallelic RPE65 disease-causing variants included elevation in intraocular pressure (59%), vitreous opacities (26%), and persistent intraocular inflammation (15%), which resolved over a period of months.
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