Knowledge and Current Practices in Monogenic Uveitis : An International Survey by IUSG and AIDA Network
© 2023. The Author(s)..
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.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2024 |
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| Erschienen: |
2024 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:13 |
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| Enthalten in: |
Ophthalmology and therapy - 13(2024), 1 vom: 18. Jan., Seite 127-147 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Gaggiano, Carla [VerfasserIn] |
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| Links: |
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| Themen: |
Autoinflammatory diseases |
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| Anmerkungen: |
Date Revised 12.01.2024 published: Print-Electronic Citation Status PubMed-not-MEDLINE |
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| doi: |
10.1007/s40123-023-00839-1 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| 100 | 1 | |a Gaggiano, Carla |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Knowledge and Current Practices in Monogenic Uveitis |b An International Survey by IUSG and AIDA Network |
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| 500 | |a Date Revised 12.01.2024 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a Citation Status PubMed-not-MEDLINE | ||
| 520 | |a © 2023. The Author(s). | ||
| 520 | |a INTRODUCTION: This study aims to explore awareness, knowledge, and diagnostic/therapeutic practices in monogenic uveitis (mU) among uveitis experts | ||
| 520 | |a 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 | ||
| 520 | |a 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 | ||
| 520 | |a 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 | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Autoinflammatory diseases | |
| 650 | 4 | |a Differential diagnosis | |
| 650 | 4 | |a Genetic uveitis | |
| 650 | 4 | |a Pathogenesis | |
| 650 | 4 | |a Rare diseases | |
| 700 | 1 | |a Gupta, Vishali |e verfasserin |4 aut | |
| 700 | 1 | |a Agrawal, Rupesh |e verfasserin |4 aut | |
| 700 | 1 | |a De Smet, Marc D |e verfasserin |4 aut | |
| 700 | 1 | |a Frediani, Bruno |e verfasserin |4 aut | |
| 700 | 1 | |a Tosi, Gian Marco |e verfasserin |4 aut | |
| 700 | 1 | |a Paroli, Maria Pia |e verfasserin |4 aut | |
| 700 | 1 | |a Sridharan, Sudharshan |e verfasserin |4 aut | |
| 700 | 1 | |a Pavesio, Carlos E |e verfasserin |4 aut | |
| 700 | 1 | |a Pleyer, Uwe |e verfasserin |4 aut | |
| 700 | 1 | |a Denisova, Ekaterina V |e verfasserin |4 aut | |
| 700 | 1 | |a Babu, Kalpana |e verfasserin |4 aut | |
| 700 | 1 | |a de-la-Torre, Alejandra |e verfasserin |4 aut | |
| 700 | 1 | |a Yang, Peizeng |e verfasserin |4 aut | |
| 700 | 1 | |a Davis, Janet L |e verfasserin |4 aut | |
| 700 | 1 | |a Cunningham, Emmett T |e verfasserin |4 aut | |
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| 700 | 1 | |a Fabiani, Claudia |e verfasserin |4 aut | |
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