June 2021
Volume 62, Issue 8
Open Access
ARVO Annual Meeting Abstract  |   June 2021
Voretigene neparvovec in patients with RPE65 mutation-associated inherited retinal dystrophy: Baseline characteristics from the real-world, prospective, observational PERCEIVE study
Author Affiliations & Notes
  • M Dominik Fischer
    Centre for Ophthalmology, University of Tübingen, Tübingen, Germany
    Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, Oxfordshire, United Kingdom
  • Rainer Maier
    Novartis Pharma AG, Basel, Switzerland
  • Claudio Spera
    Novartis Pharma AG, Basel, Switzerland
  • Bart P Leroy
    Department of Ophthalmology & Center for Medical Genetics, Ghent University & Ghent University Hospital, Ghent, Belgium
    Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, United States
  • Christina Fasser
    Retina International, Dublin, Ireland
    Retina Suisse, Zurich, Switzerland
  • Footnotes
    Commercial Relationships   M Dominik Fischer, Adelphi Values (C), Advent France Biotechnology (C), Alpha sights (C), Atheneum (C), Axiom Healthcare Strategies (C), Biogen (C), Decision Resources (C), Dialectica (C), Frontera Therapeutics (C), Janssen Research & Development (C), Navigant (C), Roche (C), Sirion (C), STZ eyetrial (C); Rainer Maier, Novartis Pharma AG (E); Claudio Spera, Novartis Pharma AG (E); Bart Leroy, Bayer (C), GenSight Therapeutics (C), GenSight Therapeutics (R), Iveric Bio (C), Iveric Bio (R), Novartis (C), Novartis (R), ProQR Therapeutics (C), ProQR Therapeutics (R), REGENXBIO (C), Spark Therapeutics (C), Vedere Bio (C); Christina Fasser, Retina International (E)
  • Footnotes
    Support  Novartis Pharma AG
Investigative Ophthalmology & Visual Science June 2021, Vol.62, 1476. doi:
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      M Dominik Fischer, Rainer Maier, Claudio Spera, Bart P Leroy, Christina Fasser; Voretigene neparvovec in patients with RPE65 mutation-associated inherited retinal dystrophy: Baseline characteristics from the real-world, prospective, observational PERCEIVE study. Invest. Ophthalmol. Vis. Sci. 2021;62(8):1476.

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      © ARVO (1962-2015); The Authors (2016-present)

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Purpose : Voretigene neparvovec (VN) is the first ocular gene therapy approved in multiple countries including the USA and Europe for treating patients (pts) with visual impairment due to confirmed biallelic RPE65 mutation-associated inherited retinal dystrophy having sufficient viable retinal cells. PERCEIVE, a registry-based post-authorization safety study, is designed to assess long-term safety of VN in a real-world (RW) setting. Here, baseline characteristics of participating pts treated with VN up to August 2020 are reported.

Methods : PERCEIVE is an ongoing, prospective, longitudinal, multicenter (ex-US), observational, safety study, which commenced December 2019 with the aim to enroll a minimum of 40 pts. All VN-treated pts are encouraged to participate in the study to maximize data collection, including those treated prior to study inception. After receiving VN as per local prescribing information, pts are followed-up as per the routine medical care for 5 years. The objectives are to characterize the long-term safety profile of VN via systematic collection of adverse event data, to follow pregnancy outcomes and assess visual function over time.

Results : Until data cut-off (Aug 2020), of the 15 pts enrolled, 10 pts (16 eyes) have received VN (6 bilateral; 4 unilateral). All treated pts are from Europe (Germany: 6; France: 3; Austria: 1). At the time of enrollment, the mean (standard deviation [SD]) age was 27.6 (9.81) years with a range of 15–51 years (1 adolescent; 9 adults). The majority of treated pts are female (n=7; 70%). For the treated eyes (n=16), baseline mean (SD) visual acuity was 0.96 (0.37) logMAR (n=14; range: 0.5–1.6 logMAR) and full-field stimulus threshold (white light) was −4.32 (9.40) dB (n=15; range: −34.9 to 3.2 dB). Optical coherence tomography (OCT) revealed a mean foveal thickness of 150.5 (41.07) µm (n=15; range: 76–216 µm). Central OCT showed that 11 eyes had an outer nuclear layer with a thickness range of 36–74 µm (n=9), while it was absent in 4 eyes. The ellipsoid zone line was disrupted in 9 eyes and was undetected in 6.

Conclusions : While enrollment and in person follow-up of VN-treated pts has been impacted due to COVID-19, PERCEIVE has started to provide valuable information on baseline characteristics of this vision-impaired population, and effect of VN therapy in a RW setting.

This is a 2021 ARVO Annual Meeting abstract.


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