June 2022
Volume 63, Issue 7
Open Access
ARVO Annual Meeting Abstract  |   June 2022
Current management of patients with RPE65 mutation-associated Inherited Retinal Degenerations (RPE65-IRD) in Europe. Results of a 2-year follow-up multinational survey by the European Vision Institute Clinical Research Network (EVICR.net) and the European Reference Network for Rare Eye Diseases (ERN-EYE)
Author Affiliations & Notes
  • Birgit Lorenz
    Department of Ophthalmology, University Hospital Bonn, Bonn, Germany
    Justus-Liebig-University, Giessen, Germany
  • Joana Tavares
    AIBILI - Association for Innovation and Biomedical Research on Light and Image, Coimbra, Portugal
  • Ingeborgh van den Born
    Rotterdam Eye Hospital, Rotterdam, Netherlands
  • João Pedro Marques
    AIBILI - Association for Innovation and Biomedical Research on Light and Image, Coimbra, Portugal
    Department of Ophthalmology, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal
  • Katarina Stingl
    Center for Ophthalmology, University of Tuebingen, University Eye Hospital, Tuebingen, Germany
  • Elisabetta Pilotto
    Department of Ophthalmology, University of Padova, Padova, Italy
  • Peter Charbel Issa
    Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom
    Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom
  • Dorothee Leroux
    CARGO & ERN-EYE management, Hôpitaux Universitaires de Strasbourg, Strasbourg, France
  • Helene Dollfus
    CARGO & ERN-EYE management, Hôpitaux Universitaires de Strasbourg, Strasbourg, France
  • Hendrik P Scholl
    Institute of Molecular and Clinical Ophthalmology Basel, Basel, Switzerland
    Department of Ophthalmology, University of Basel, Basel, Switzerland
  • Footnotes
    Commercial Relationships   Birgit Lorenz Novartis, Janssen, Code C (Consultant/Contractor); Joana Tavares None; Ingeborgh van den Born None; João Marques Novartis; Bayer; Chiesi; Roche, Code C (Consultant/Contractor); Katarina Stingl ProQR, ViGeneron, Novartis, Santen, Rejuveron, Lightning Health, Code C (Consultant/Contractor), Novartis, CRA , Code R (Recipient); Elisabetta Pilotto None; Peter Charbel Issa Dicerna Heidelberg Engineering, Code F (Financial Support); Dorothee Leroux None; Helene Dollfus Novartis, Janssen, Rhythm, Code C (Consultant/Contractor); Hendrik Scholl Gerson Lehrman Group, Guidepoint, Tenpoint Therapeutics Ltd. , Code C (Consultant/Contractor), Swiss National Science Foundation (National Center of Competence in Research Molecular Systems Engineering “Molecular Systems Engineering”), Wellcome Trust (Pinnacle Study), Foundation Fighting Blindness Clinical Research Institute, Novartis Pharma AG, Pharma Research & Early Development (pRED) of F. Hoffmann-La Roche Ltd, Kinarus AG, Code F (Financial Support), Gensight Biologics, ReNeuron Group Plc/Ora Inc., Novo Nordisk, Ionis Pharmaceuticals, Inc., Astellas Institute for Regenerative Medicine, Code S (non-remunerative)
  • Footnotes
    Support  Novartis Sponsorship
Investigative Ophthalmology & Visual Science June 2022, Vol.63, 4488 – F0275. doi:
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      Birgit Lorenz, Joana Tavares, Ingeborgh van den Born, João Pedro Marques, Katarina Stingl, Elisabetta Pilotto, Peter Charbel Issa, Dorothee Leroux, Helene Dollfus, Hendrik P Scholl; Current management of patients with RPE65 mutation-associated Inherited Retinal Degenerations (RPE65-IRD) in Europe. Results of a 2-year follow-up multinational survey by the European Vision Institute Clinical Research Network (EVICR.net) and the European Reference Network for Rare Eye Diseases (ERN-EYE). Invest. Ophthalmol. Vis. Sci. 2022;63(7):4488 – F0275.

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

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Abstract

Purpose : To evaluate the current management of RPE65-IRD in Europe since market authorization of Voretigene Neparvovec (VN, LuxturnaTM) in 2018. To date, over 200 patients have been treated outside the USA, of which about 90% in Europe. We conducted among all EVICR.net centers and ERN-EYE health care providers (HCPs) the second multinational survey on management of IRDs in Europe with a special focus on RPE65-IRD.

Methods : An electronic survey questionnaire with 48 questions specifically addressing RPE65-IRD (2019 survey 351) was developed and sent to 126 EVICR.net centers and ERN-EYE HCPs. Statistical analysis was performed with Excel and R.

Results : The overall response rate was 44%; 26 sites follow RPE65-IRD patients. Table 1 compares data with the 2019 survey1. By June 2021, 8/26 centers have treated 57 RPE65-IRD cases (1 – 19/site, median 6), and 43 await treatment (range 0 - 10/site, median 5). The overall age range was 3 – 52 years, and 172 patients do not (yet) qualify for treatment (2 - 60/site, median 15). Main reasons were too advanced (54% on average) or mild disease (18% on average). Only 38% of centers participate in the PERCEIVE registry (EUPAS31153, http://www.encepp.eu/encepp/viewResource.htm?id=37005). Table 2 summarizes objective and subjective outcomes for 12 items. Quality of life and full field stimulus test (FST) improvements had the highest scores.

Conclusions : This second multinational survey on management of RPE65-IRD of EVICR.net sites and ERN-EYE HCPs in Europe indicates that RPE65-IRD is diagnosed more reliably in 2021 compared to 2019. By June 2021, 8/26 sites reported detailed results. Main reasons for non-treatment were too advanced or mild disease. Patient satisfaction with treatment was 40%. Detailed results were not available in 50 to 80% of the 12 outcome items.

1. Lorenz B, et al. Ophthalmic Res. 2021;64(5):740-753. doi:10.1159/000515688

This abstract was presented at the 2022 ARVO Annual Meeting, held in Denver, CO, May 1-4, 2022, and virtually.

 

Table 1: Management of RPE65-IRD patients in Europe in 2021 compared to 20191

Table 1: Management of RPE65-IRD patients in Europe in 2021 compared to 20191

 

Table 2: Outcome results in 57 patients following VN therapy at 8 European sites

Table 2: Outcome results in 57 patients following VN therapy at 8 European sites

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