June 2020
Volume 61, Issue 7
Free
ARVO Annual Meeting Abstract  |   June 2020
Current management of patients with RPE65 associated inherited retinal degenerations (IRDs) in Europe. Results of a multinational survey conducted by the EVICR.net.
Author Affiliations & Notes
  • Birgit Lorenz
    Ophthalmology, Justus-Liebig University Giessen, Giessen, Germany
    Ophthalmology, Universitaetsklinikum Giessen and Marburg GmbH Campus Giessen, Giessen, Hesse, Germany
  • L. Ingeborgh van den Born
    Rotterdam Eye Hospital, Rotterdam, Netherlands
  • Joana Tavares
    Association for Innovation and Biomedical Research on Light and Image (AIBILI), Coimbra, Portugal
  • João Pedro Marques
    Centre for Clinical Trials, Association for Innovation and Biomedical Research on Light and Image (AIBILI), Coimbra, Portugal
    Centro Hospitalar e Universitário de Coimbra (CHUC), Coimbra, Portugal
  • Sue Lacey
    Novartis Pharmaceuticals, United Kingdom
  • Hendrik P Scholl
    Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland
    Department of Ophthalmology, University of Basel, Basel, Switzerland
  • Footnotes
    Commercial Relationships   Birgit Lorenz, Allergan-Editas (F), Bayer (R), Novartis (C), Novartis (R), Santen (R); L. Ingeborgh van den Born, None; Joana Tavares, None; João Pedro Marques, Bayer (C), Novartis (C); Sue Lacey, Novartis Pharmaceuticals (E); Hendrik Scholl, Astellas Institute for Regenerative Medicine (S), Foundation Fighting Blindness Clinical Research Institute (F), Gensight Biologics (S), Gerson Lehrman Group (C), Guidepoint (C), Gyroscope Therapeutics Ltd. (C), Ionis Pharmaceuticals, Inc. (S), Kinarus AG (F), Novartis Pharma AG (F), Novo Nordisk (S), Pharma Research & Early Development (pRED) of F. Hoffmann-La Roche Ltd (F), ReNeuron Group Plc/Ora Inc. (S), Swiss National Science Foundation (National Center of Competence in Research Molecular Systems Engineering “Molecular Systems Engineering”) (F), Wellcome Trust ("Pinnacle Study") (F)
  • Footnotes
    Support  Novartis Research Collaboration
Investigative Ophthalmology & Visual Science June 2020, Vol.61, 3032. doi:
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      Birgit Lorenz, L. Ingeborgh van den Born, Joana Tavares, João Pedro Marques, Sue Lacey, Hendrik P Scholl; Current management of patients with RPE65 associated inherited retinal degenerations (IRDs) in Europe. Results of a multinational survey conducted by the EVICR.net.. Invest. Ophthalmol. Vis. Sci. 2020;61(7):3032.

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

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Abstract

Purpose : Recently, gene augmentation therapy with voretigene neparvovec (Luxturna®) was approved for clinical use (USA 2017, Europe 2018, United Arab Emirates and Saudi Arabia 2019). Among the EVICR.net clinical sites, we conducted the first multinational survey to understand management and experience of IRD cases in Europe with a special focus on RPE65-associated IRDs.

Methods : An electronic survey questionnaire including 29 questions specifically addressing RPE65-associated IRDs was developed and sent to the 101 EVICR.net clinical sites.

Results : The overall response rate was 49% (range by country 22% to 73%). 42 centers see IRD patients, of which 22 follow patients with confirmed biallelic RPE65 mutations. Nation wise, 33% to 100% of the responding centers manage such patients. 15/22 centers (68%) and 3/22 (14%) follow 1-5 and 6-10 patients with homozygous RPE65 mutations, respectively. 15/22 (68%) and 3/22 (14%) follow 1-5 and >20 patients with compound heterozygous RPE65 mutations, respectively. 65% of mutations were ACMG Class 4 and 5 (at least one allele), 68% reported previously and 14% novel. Referral diagnoses (mean per center) were Leber Congenital Amaurosis (34.8%), Early-onset severe retinal degeneration (15.3%), Rod-Cone-Dystrophy/Retinitis pigmentosa (25.6%), and unclassified visual impairment (15.9%). 25% of the centers changed the referral diagnosis in > 40% of cases; 32% follow a specific referral process for RPE65-associated IRD patients. Yearly follow-up visits are done in 55% of the centers, and biannual visits in 23%. In 32%, other centers also follow the patients. Kinetic perimetry is done in 82%, static perimetry in 45%, microperimetry in 18%. Fullfield Light Stimulus Threshold Testing (FST) with blue and red stimuli to quantify rod and cone function is used in 6/22 centers (27%). A mobility parcours is available in one center (5%).

Conclusions : This first multinational survey on management of patients with RPE65 associated IRDs in Europe shows that about half of the responding EVICR.net centers have such patients under care. There is heterogeneity in diagnoses and management practices. At the start of clinical practice experience with voretigene neparvovec, these data provide a useful baseline and highlight the need for consensus/guidelines to inform standard of care in this new era of gene therapy.

This is a 2020 ARVO Annual Meeting abstract.

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