June 2020
Volume 61, Issue 7
Free
ARVO Annual Meeting Abstract  |   June 2020
Current management of Inherited Retinal Degenerations (IRD) patients in Europe. Results of a multinational survey by the EVICR.net
Author Affiliations & Notes
  • Joana Tavares
    Association for Innovation and Biomedical Research on Light and Image (AIBILI), Coimbra, Portugal
  • Birgit Lorenz
    Department of Ophthalmology, Justus-Liebig University, Giessen, Germany
    Department of Ophthalmology, Universitaetsklinikum Giessen and Marburg GmbH Campus Giessen, Giessen, Hesse, Germany
  • L. Ingeborgh van den Born
    Rotterdam Eye Hospital, Rotterdam, Netherlands
  • 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   Joana Tavares, None; Birgit Lorenz, Allergan-Editas (F), Bayer (R), Novartis (C), Novartis (R), Santen (R); L. Ingeborgh van den Born, 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, 3040. doi:
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      Joana Tavares, Birgit Lorenz, L. Ingeborgh van den Born, João Pedro Marques, Sue Lacey, Hendrik P Scholl; Current management of Inherited Retinal Degenerations (IRD) patients in Europe. Results of a multinational survey by the EVICR.net. Invest. Ophthalmol. Vis. Sci. 2020;61(7):3040.

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

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Abstract

Purpose : An increasing number of gene therapies are being developed for IRD. To date, one treatment has been approved for clinical use (USA 2017, Europe 2018, United Arab Emirates and Saudi Arabia 2019). Whilst such therapies do not provide complete cure, they may halt degeneration or partially restore function. Identification of well characterised patients is an emerging need. We conducted the first multinational survey among the EVICR.net members to understand the management of IRDs in Europe.

Methods : An electronic survey questionnaire was developed and sent to the 101 EVICR.net Clinical Sites (14 European Countries and Israel). Statistical analysis was performed with Excel.

Results : The overall response rate was 49% and varied among countries (22% to 73%). Only 14% of responding centers do not see IRD patients. 52% of centers that manage IRD patients follow at least 200 patients, with 19% following >1000. Databases exist in 86% of the sites (local 75%; national web-based, 19%). IRD patients are referred to EVICR.net centers mainly by ophthalmologists, patient self-referral and medical retina specialists. Most IRD patients are first seen as adults. Signs and symptoms depend on the age of onset e.g. nystagmus in infancy, or night blindness and reduced visual acuity at older age. The time from inquiring for first appointment and clinical diagnosis varies among countries. In 29% of centers, the mean time is < 4 weeks, although can be up to 35 months in others. The time to genetic diagnosis is at least 4 months, with the highest time of 10 years, likely depending on access to genetic testing. Comprehensive eye examination always includes FAF and perimetry (86% static; 76% kinetic; 21% microperimetry), and frequently OCT (95%), ERG (93%) and fundus photography (93%). Identified genotypes were reported in 40 to 80% patients by 68% of sites, and in 80 to 100% by 5%. Genetic testing is provided by public health in 77% of centers, private health insurance in 38%, center budget in 13%, research funds in 18%. 15% of centers do not have access to genetic testing.

Conclusions : At the start of this era of ocular gene therapy for IRD patients, this first multinational survey on management of IRDs in Europe highlights heterogeneity in approach among centers and across countries and provides important baseline data for researchers, clinicians, pharmaceutical companies and investors.

This is a 2020 ARVO Annual Meeting abstract.

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