Knowledge and Current Practices in Monogenic Uveitis: An International Survey by IUSG and AIDA Network
Abstract Introduction This study aims to explore awareness, knowledge, and diagnostic/therapeutic practices in monogenic uveitis (mU) among uveitis experts. Methods This is an explorative, cross-sectional survey study. An anonymous, semi-structured, electronic survey was delivered to uveitis experts...
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| Language: | English |
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Adis, Springer Healthcare
2023-11-01
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| Series: | Ophthalmology and Therapy |
| Subjects: | |
| Online Access: | https://doi.org/10.1007/s40123-023-00839-1 |
| _version_ | 1797355917391429632 |
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| author | Carla Gaggiano Vishali Gupta Rupesh Agrawal Marc D. De Smet Bruno Frediani Gian Marco Tosi Maria Pia Paroli Sudharshan Sridharan Carlos E. Pavesio Uwe Pleyer Ekaterina V. Denisova Kalpana Babu Alejandra de-la-Torre Peizeng Yang Janet L. Davis Emmett T. Cunningham Ester Carreño Debra Goldstein Alex Fonollosa Luca Cantarini Lucia Sobrin Claudia Fabiani |
| author_facet | Carla Gaggiano Vishali Gupta Rupesh Agrawal Marc D. De Smet Bruno Frediani Gian Marco Tosi Maria Pia Paroli Sudharshan Sridharan Carlos E. Pavesio Uwe Pleyer Ekaterina V. Denisova Kalpana Babu Alejandra de-la-Torre Peizeng Yang Janet L. Davis Emmett T. Cunningham Ester Carreño Debra Goldstein Alex Fonollosa Luca Cantarini Lucia Sobrin Claudia Fabiani |
| author_sort | Carla Gaggiano |
| collection | DOAJ |
| description | Abstract Introduction This study aims to explore awareness, knowledge, and diagnostic/therapeutic practices in monogenic uveitis (mU) among uveitis experts. Methods This is an explorative, cross-sectional survey study. An anonymous, semi-structured, electronic survey was delivered to uveitis experts from the Autoinflammatory Diseases Alliance (AIDA) Network and International Uveitis Study Group (IUSG). We included respondents answering ≥ 50% of the survey. Results Seventy-seven participants rated their knowledge of mU as proficient (3.9%), adequate (15.6%), sufficient (16.9%), or poor (63.6%). When asked about the first mU gene they thought of, 60.4% mentioned NOD2, 3.9% mentioned NLRP3 or MEFV, and 49.4% provided incorrect or no answers. Success rates in clinical scenarios varied from 15.6% to 55.8% and were higher for ophthalmologists working in multidisciplinary teams (p < 0.01). Genetic testing was ordered for suspected mU by 41.6% of physicians. The availability of molecular techniques did not significantly differ based on geography (p > 0.05). The public healthcare system ensured a higher percentage of tests prescribed were obtained by patients compared to private insurances (p < 0.00). In terms of disease-modifying anti-rheumatic drugs (DMARDs), tumor necrosis factor-α inhibitors were the most familiar to uveitis experts. The difficulties with off-label therapy procedures were the primary barrier to DMARDs prescription for patients with mU and correlated inversely with the obtained/prescribed drug ratio for interleukin-1 (p < 0.01) and interleukin-6 (p < 0.01) inhibitors. Conclusions This survey identifies proficiency areas, gaps, and opportunities for targeted improvements in patients care. The comprehensive outputs may inform evidence-based guidelines, empowering clinicians with standardized approaches, and drive an AIDA Network—IUSG unified effort to advance scientific knowledge and clinical practice. |
| first_indexed | 2024-03-08T14:19:02Z |
| format | Article |
| id | doaj.art-5aa84ea6cc034eff90a1f69ff8489d1d |
| institution | Directory Open Access Journal |
| issn | 2193-8245 2193-6528 |
| language | English |
| last_indexed | 2024-03-08T14:19:02Z |
| publishDate | 2023-11-01 |
| publisher | Adis, Springer Healthcare |
| record_format | Article |
| series | Ophthalmology and Therapy |
| spelling | doaj.art-5aa84ea6cc034eff90a1f69ff8489d1d2024-01-14T12:14:17ZengAdis, Springer HealthcareOphthalmology and Therapy2193-82452193-65282023-11-0113112714710.1007/s40123-023-00839-1Knowledge and Current Practices in Monogenic Uveitis: An International Survey by IUSG and AIDA NetworkCarla Gaggiano0Vishali Gupta1Rupesh Agrawal2Marc D. De Smet3Bruno Frediani4Gian Marco Tosi5Maria Pia Paroli6Sudharshan Sridharan7Carlos E. Pavesio8Uwe Pleyer9Ekaterina V. Denisova10Kalpana Babu11Alejandra de-la-Torre12Peizeng Yang13Janet L. Davis14Emmett T. Cunningham15Ester Carreño16Debra Goldstein17Alex Fonollosa18Luca Cantarini19Lucia Sobrin20Claudia Fabiani21Department of Medical Sciences, Surgery and Neurosciences, Rheumatology Unit, University of Siena and Azienda Ospedaliero-Universitaria Senese (European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA) Center), Policlinico “Le Scotte”Advanced Eye Centre, Postgraduate Institute of Medical Education and Research11 Jalan Tan Tock Seng, Level 1, TTSH Medical Centre, National Healthcare Group Eye Institute, Tan Tock Seng HospitalMicroInvasive Ocular Surgery ClinicDepartment of Medical Sciences, Surgery and Neurosciences, Rheumatology Unit, University of Siena and Azienda Ospedaliero-Universitaria Senese (European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA) Center), Policlinico “Le Scotte”Ophthalmology Unit, Department of Medicine, Surgery and Neurosciences, University of Siena and Azienda Ospedaliero-Universitaria Senese, (European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory, and Autoimmune Diseases (RITA) Center), Policlinico “Le Scotte”Department of Sense Organs, Eye Clinic, Uveitis Unit, Sapienza University of Rome, Policlinico Umberto I University HospitalDepartment of Uvea, Medical and Vision Research Foundations, Sankara NethralayaMoorfields Eye Hospital, NHS Foundation TrustKlinik Für Augenheilkunde, Berlin Institute of Health, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität Zu BerlinHelmholtz National Medical Research Center of Eye DiseasesDepartment of Uvea and Ocular Inflammation, Prabha Eye Clinic and Research Centre, Vittala International Institute of OphthalmologyNeuroscience Research Group (NEUROS), Neurovitae Center for Neuroscience, Institute of Translational Medicine (IMT), School of Medicine and Health Sciences, Universidad del RosarioChongqing Key Laboratory of Ophthalmology, Chongqing Eye Institute, Chongqing Branch (Municipality Division) of National Clinical Research Center for Ocular Diseases, The First Affiliated Hospital of Chongqing Medical UniversityDepartment of Ophthalmology, University of Miami Miller School of Medicine, Bascom Palmer Eye InstituteThe Department of Ophthalmology, California Pacific Medical CenterHospital Universitario Fundacion Jimenez DiazDepartment of Ophthalmology, Northwestern University Feinberg School of MedicineDepartment of Ophthalmology, Biocruces Bizkaia Health Research Institute, Cruces University Hospital, University of the Basque CountryDepartment of Medical Sciences, Surgery and Neurosciences, Rheumatology Unit, University of Siena and Azienda Ospedaliero-Universitaria Senese (European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA) Center), Policlinico “Le Scotte”Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical SchoolOphthalmology Unit, Department of Medicine, Surgery and Neurosciences, University of Siena and Azienda Ospedaliero-Universitaria Senese, (European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory, and Autoimmune Diseases (RITA) Center), Policlinico “Le Scotte”Abstract Introduction This study aims to explore awareness, knowledge, and diagnostic/therapeutic practices in monogenic uveitis (mU) among uveitis experts. Methods This is an explorative, cross-sectional survey study. An anonymous, semi-structured, electronic survey was delivered to uveitis experts from the Autoinflammatory Diseases Alliance (AIDA) Network and International Uveitis Study Group (IUSG). We included respondents answering ≥ 50% of the survey. Results Seventy-seven participants rated their knowledge of mU as proficient (3.9%), adequate (15.6%), sufficient (16.9%), or poor (63.6%). When asked about the first mU gene they thought of, 60.4% mentioned NOD2, 3.9% mentioned NLRP3 or MEFV, and 49.4% provided incorrect or no answers. Success rates in clinical scenarios varied from 15.6% to 55.8% and were higher for ophthalmologists working in multidisciplinary teams (p < 0.01). Genetic testing was ordered for suspected mU by 41.6% of physicians. The availability of molecular techniques did not significantly differ based on geography (p > 0.05). The public healthcare system ensured a higher percentage of tests prescribed were obtained by patients compared to private insurances (p < 0.00). In terms of disease-modifying anti-rheumatic drugs (DMARDs), tumor necrosis factor-α inhibitors were the most familiar to uveitis experts. The difficulties with off-label therapy procedures were the primary barrier to DMARDs prescription for patients with mU and correlated inversely with the obtained/prescribed drug ratio for interleukin-1 (p < 0.01) and interleukin-6 (p < 0.01) inhibitors. Conclusions This survey identifies proficiency areas, gaps, and opportunities for targeted improvements in patients care. The comprehensive outputs may inform evidence-based guidelines, empowering clinicians with standardized approaches, and drive an AIDA Network—IUSG unified effort to advance scientific knowledge and clinical practice.https://doi.org/10.1007/s40123-023-00839-1Autoinflammatory diseasesDifferential diagnosisGenetic uveitisPathogenesisRare diseases |
| spellingShingle | Carla Gaggiano Vishali Gupta Rupesh Agrawal Marc D. De Smet Bruno Frediani Gian Marco Tosi Maria Pia Paroli Sudharshan Sridharan Carlos E. Pavesio Uwe Pleyer Ekaterina V. Denisova Kalpana Babu Alejandra de-la-Torre Peizeng Yang Janet L. Davis Emmett T. Cunningham Ester Carreño Debra Goldstein Alex Fonollosa Luca Cantarini Lucia Sobrin Claudia Fabiani Knowledge and Current Practices in Monogenic Uveitis: An International Survey by IUSG and AIDA Network Ophthalmology and Therapy Autoinflammatory diseases Differential diagnosis Genetic uveitis Pathogenesis Rare diseases |
| title | Knowledge and Current Practices in Monogenic Uveitis: An International Survey by IUSG and AIDA Network |
| title_full | Knowledge and Current Practices in Monogenic Uveitis: An International Survey by IUSG and AIDA Network |
| title_fullStr | Knowledge and Current Practices in Monogenic Uveitis: An International Survey by IUSG and AIDA Network |
| title_full_unstemmed | Knowledge and Current Practices in Monogenic Uveitis: An International Survey by IUSG and AIDA Network |
| title_short | Knowledge and Current Practices in Monogenic Uveitis: An International Survey by IUSG and AIDA Network |
| title_sort | knowledge and current practices in monogenic uveitis an international survey by iusg and aida network |
| topic | Autoinflammatory diseases Differential diagnosis Genetic uveitis Pathogenesis Rare diseases |
| url | https://doi.org/10.1007/s40123-023-00839-1 |
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