Retinal Bioenergetics: New Insights for Therapeutics

Maloney, Daniel; Chadderton, Naomi; Palfi, Arpad; Millington‐Ward, Sophia; Farrar, G. Jane

doi:10.1007/978-3-030-27378-1_45

Cited by 2 publications

(2 citation statements)

References 30 publications

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“…Until very recently, no medical treatment was available for the vast majority. The interest has increased significantly in recent years due to the development of therapeutic strategies for an increasing number of disease-causing genes [6][7][8][9][10][11][12][13][14], though with variable success and the recognition of new challenges that need to be addressed. The aim of this study was to conduct a follow-up survey 2 years after the first European survey [15] to understand changes in the management and experience of IRDs across Europe as the first survey had disclosed significant differences among and within countries.…”

Section: Introductionmentioning

confidence: 99%

Current Management of Inherited Retinal Degeneration Patients in Europe: Results of a 2-Year Follow-Up Multinational Survey by the European Vision Institute Clinical Research Network – EVICR.net

et al. 2023

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Introduction: An increasing number of gene-specific therapies are being developed for IRDs. Identification of well characterized patients is an emerging need. We conducted the second multinational survey among the EVICR.net and ERN-EYE members to understand the management and treatment of IRDs in Europe and compared it to the 2019 survey. Methods: An electronic survey questionnaire was developed and sent to 124 clinical centers (25 countries) by June/July 2021. Statistical analysis was performed with Excel and R. Results: The overall response rate was 44% but varied among countries. Only 9% of responding centers do not see IRD patients (2019 survey 14%); 42% follow at least 200 patients per year, 18% follow 500-999 and 2% more than 1000. Databases exist in 86% of the centers (local 86%; national web-based 12%). IRD patients are referred to EVICR.net and ERN-EYE centers mainly by general ophthalmologists, patient self-referral, or medical retina specialists. Most IRD patients are first seen as adults. Signs and symptoms depend on age of onset: in infancy nystagmus, at older age night blindness and reduced visual field; reduced visual acuity (VA) is described at any age. Comprehensive ophthalmic examination always includes VA, and almost always visual fields multimodal retinal imaging, electrophysiology, color vision testing, and refraction. Identification of genotypes is successful in 72% of centers in 40-80% of cases (2019 survey 69% of centers). The time for confirmation of the genetic diagnosis varies from 2-4 weeks to 24 months (2019 survey > 4 weeks ≤ 10 years). Genetic testing is covered by public health service in 83%, private health insurance in 29%, research funds in 24%; 5% do not have access to genetic testing (2019 survey 15%). The most striking result is the high increase in the involvement of centers in natural history and gene therapy trials that for the latter more than doubled. Discussion/Conclusion: This second multinational survey on management of IRDs in Europe highlights persistent important differences in the number of IRD patients managed per center, comparable diagnostic work-up, and increasing genotyping in diagnostic laboratories. The important increase of involvement of centers in natural history and gene therapy trials reflects the rapidly evolving field of gene therapy development. The survey provides important follow-up data for researchers, clinicians, care givers, patient advocate groups, pharmaceutical companies and investors.

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Section: Introductionmentioning

confidence: 99%

Current Management of Inherited Retinal Degeneration Patients in Europe: Results of a 2-Year Follow-Up Multinational Survey by the European Vision Institute Clinical Research Network – EVICR.net

et al. 2023

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“…They are potentially blinding disorders with a prevalence of about 1 in 3,000 [2] and no medical treatment for the vast majority until very recently. The interest has increased significantly in recent years due to the development of therapies for an increasing number of disease-causing genes [3-5]. The aim of this study was to conduct the first international survey to understand management and experience of IRDs across Europe because of a lack of data, and because of potential differences among and within countries.…”

Section: Introductionmentioning

confidence: 99%

Current Management of Inherited Retinal Degeneration Patients in Europe: Results of a Multinational Survey by the European Vision Institute Clinical Research Network

et al. 2021

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Purpose: An increasing number of gene therapies are developed for Inherited Retinal Degenerations (IRD). To date, one treatment has been approved for clinical use (FDA USA 2017, EMA Europe 2018, MoHAP UAE 2019, SFDA Saudi Arabia 2019, Swiss Medic Switzerland 2020, TGA Australia 2020, BFR Brazil 2020). Whilst such therapies do not provide complete cure, they may halt degeneration or partially restore function. Identification of well-characterized patients is an emerging need. We conducted the first multinational survey to understand the management of IRDs in Europe. Methods: An electronic survey questionnaire containing 112 questions was developed and sent to the 101 EVICR.net Clinical Centers (14 European Countries and Israel). Results: The overall response rate was 49%. Only 14% of responding centers do not see IRD patients; 52% that manage IRD patients follow ≥200 patients, 16% >1000. Databases exist in 86% of the centers; of these 75% are local files, 28% local web-based database and 19% national web-based. IRD patients are referred to EVICR.net centers mainly by general ophthalmologists, patient self-referrals and medical retina specialists. Most IRD patients are first seen in adulthood. Most prominent signs and symptoms depend on 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 ≥4 weeks, the maximum 10 years, likely depending on access to genetic testing, and the improvement of the tests available. Comprehensive eye examination always includes autofluorescence imaging and perimetry (86% static; 76% kinetic; 21% microperimetry), and frequently optical coherence tomography (95%), electroretinography (93%) and fundus photography (93%). Identified genotypes were reported in 40 to 80% patients by 69% of centers, and in 80 to 100% by 5%. Genetic testing is provided by public health insurance 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. Conclusion: At the start of this era of ocular gene therapy for IRD patients, this first international survey on management of IRDs in Europe highlights significant heterogeneity between centers and across countries and provides important baseline data for researchers, clinicians, pharmaceutical companies and investors.

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Retinal Bioenergetics: New Insights for Therapeutics

Cited by 2 publications

References 30 publications

Current Management of Inherited Retinal Degeneration Patients in Europe: Results of a 2-Year Follow-Up Multinational Survey by the European Vision Institute Clinical Research Network – EVICR.net

Current Management of Inherited Retinal Degeneration Patients in Europe: Results of a 2-Year Follow-Up Multinational Survey by the European Vision Institute Clinical Research Network – EVICR.net

Current Management of Inherited Retinal Degeneration Patients in Europe: Results of a Multinational Survey by the European Vision Institute Clinical Research Network

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