Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation: findings from the opinion-based PREDICT-FD modified D...
- Autores
- Hughes, Derralynn A.; Aguiar, Patricio; Deegan, Patrick B.; Ezgu, Fatih; Frustaci, Andrea; Lidove, Olivier; Linhart, Aleš; Lubanda, Jean-Claude; Moon, James C.; Nicholls, Kathleen; Niu, Dau-Ming; Nowak, Albina; Ramaswami, Uma; Reisin, Ricardo; Rozenfeld, Paula Adriana; Schiffmann, Raphael; Svarstad, Einar; Thomas, Mark; Torra, Roser; Vujkovac, Bojan; Warnock, David G.; West, Michael L.; Johnson, Jack; Rolfe , Mark J.; Feriozzi, Sandro
- Año de publicación
- 2020
- Idioma
- inglés
- Tipo de recurso
- artículo
- Estado
- versión publicada
- Descripción
- Objectives The PRoposing Early Disease Indicators for Clinical Tracking in Fabry Disease (PREDICT-FD) initiative aimed to reach consensus among a panel of global experts on early indicators of disease progression that may justify FD-specific treatment initiation. Design and setting Anonymous feedback from panellists via online questionnaires was analysed using a modified Delphi consensus technique. Questionnaires and data were managed by an independent administrator directed by two non-voting cochairs. First, possible early indicators of renal, cardiac and central/peripheral nervous system (CNS/PNS) damage, and other disease and patient-reported indicators assessable in routine clinical practice were compiled by the cochairs and administrator from panellists’ free-text responses. Second, the panel scored indicators for importance (5-point scale: 1=not important; 5=extremely important); indicators scoring ≥3 among >75% of panellists were then rated for agreement (5-point scale: 1=strongly disagree; 5=strongly agree). Indicators awarded an agreement score ≥4 by >67% of panellists achieved consensus. Finally, any panel-proposed refinements to consensus indicator definitions were adopted if >75% of panellists agreed. Results A panel of 21 expert clinicians from 15 countries provided information from which 83 possible current indicators of damage (kidney, 15; cardiac, 15; CNS/PNS, 13; other, 16; patient reported, 24) were compiled. Of 45 indicators meeting the importance criteria, consensus was reached for 29 and consolidated as 27 indicators (kidney, 6; cardiac, 10; CNS/PNS, 2; other, 6; patient reported, 3) including: (kidney) elevated albumin:creatinine ratio, histological damage, microalbuminuria; (cardiac) markers of early systolic/diastolic dysfunction, elevated serum cardiac troponin; (CNS/PNS) neuropathic pain, gastrointestinal symptoms suggestive of gastrointestinal neuropathy; (other) pain in extremities/neuropathy, angiokeratoma; (patient-reported) febrile crises, progression of symptoms/signs. Panellists revised and approved proposed chronologies of when the consensus indicators manifest. The panel response rate was >95% at all stages. Conclusions PREDICT-FD captured global opinion regarding current clinical indicators that could prompt FD-specific treatment initiation earlier than is currently practised.
Instituto de Estudios Inmunológicos y Fisiopatológicos - Materia
-
Biología
Early indicators
Fabry disease - Nivel de accesibilidad
- acceso abierto
- Condiciones de uso
- http://creativecommons.org/licenses/by-nc/4.0/
- Repositorio
- Institución
- Universidad Nacional de La Plata
- OAI Identificador
- oai:sedici.unlp.edu.ar:10915/119662
Ver los metadatos del registro completo
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Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation: findings from the opinion-based PREDICT-FD modified Delphi consensus initiativeHughes, Derralynn A.Aguiar, PatricioDeegan, Patrick B.Ezgu, FatihFrustaci, AndreaLidove, OlivierLinhart, AlešLubanda, Jean-ClaudeMoon, James C.Nicholls, KathleenNiu, Dau-MingNowak, AlbinaRamaswami, UmaReisin, RicardoRozenfeld, Paula AdrianaSchiffmann, RaphaelSvarstad, EinarThomas, MarkTorra, RoserVujkovac, BojanWarnock, David G.West, Michael L.Johnson, JackRolfe , Mark J.Feriozzi, SandroBiologíaEarly indicatorsFabry diseaseObjectives The PRoposing Early Disease Indicators for Clinical Tracking in Fabry Disease (PREDICT-FD) initiative aimed to reach consensus among a panel of global experts on early indicators of disease progression that may justify FD-specific treatment initiation. Design and setting Anonymous feedback from panellists via online questionnaires was analysed using a modified Delphi consensus technique. Questionnaires and data were managed by an independent administrator directed by two non-voting cochairs. First, possible early indicators of renal, cardiac and central/peripheral nervous system (CNS/PNS) damage, and other disease and patient-reported indicators assessable in routine clinical practice were compiled by the cochairs and administrator from panellists’ free-text responses. Second, the panel scored indicators for importance (5-point scale: 1=not important; 5=extremely important); indicators scoring ≥3 among >75% of panellists were then rated for agreement (5-point scale: 1=strongly disagree; 5=strongly agree). Indicators awarded an agreement score ≥4 by >67% of panellists achieved consensus. Finally, any panel-proposed refinements to consensus indicator definitions were adopted if >75% of panellists agreed. Results A panel of 21 expert clinicians from 15 countries provided information from which 83 possible current indicators of damage (kidney, 15; cardiac, 15; CNS/PNS, 13; other, 16; patient reported, 24) were compiled. Of 45 indicators meeting the importance criteria, consensus was reached for 29 and consolidated as 27 indicators (kidney, 6; cardiac, 10; CNS/PNS, 2; other, 6; patient reported, 3) including: (kidney) elevated albumin:creatinine ratio, histological damage, microalbuminuria; (cardiac) markers of early systolic/diastolic dysfunction, elevated serum cardiac troponin; (CNS/PNS) neuropathic pain, gastrointestinal symptoms suggestive of gastrointestinal neuropathy; (other) pain in extremities/neuropathy, angiokeratoma; (patient-reported) febrile crises, progression of symptoms/signs. Panellists revised and approved proposed chronologies of when the consensus indicators manifest. The panel response rate was >95% at all stages. Conclusions PREDICT-FD captured global opinion regarding current clinical indicators that could prompt FD-specific treatment initiation earlier than is currently practised.Instituto de Estudios Inmunológicos y Fisiopatológicos2020info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionArticulohttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfhttp://sedici.unlp.edu.ar/handle/10915/119662enginfo:eu-repo/semantics/altIdentifier/issn/2044-6055info:eu-repo/semantics/altIdentifier/doi/10.1136/ bmjopen-2019-035182info:eu-repo/semantics/openAccesshttp://creativecommons.org/licenses/by-nc/4.0/Creative Commons Attribution-NonCommercial 4.0 International (CC BY-NC 4.0)reponame:SEDICI (UNLP)instname:Universidad Nacional de La Platainstacron:UNLP2025-09-29T11:28:15Zoai:sedici.unlp.edu.ar:10915/119662Institucionalhttp://sedici.unlp.edu.ar/Universidad públicaNo correspondehttp://sedici.unlp.edu.ar/oai/snrdalira@sedici.unlp.edu.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:13292025-09-29 11:28:15.661SEDICI (UNLP) - Universidad Nacional de La Platafalse |
dc.title.none.fl_str_mv |
Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation: findings from the opinion-based PREDICT-FD modified Delphi consensus initiative |
title |
Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation: findings from the opinion-based PREDICT-FD modified Delphi consensus initiative |
spellingShingle |
Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation: findings from the opinion-based PREDICT-FD modified Delphi consensus initiative Hughes, Derralynn A. Biología Early indicators Fabry disease |
title_short |
Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation: findings from the opinion-based PREDICT-FD modified Delphi consensus initiative |
title_full |
Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation: findings from the opinion-based PREDICT-FD modified Delphi consensus initiative |
title_fullStr |
Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation: findings from the opinion-based PREDICT-FD modified Delphi consensus initiative |
title_full_unstemmed |
Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation: findings from the opinion-based PREDICT-FD modified Delphi consensus initiative |
title_sort |
Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation: findings from the opinion-based PREDICT-FD modified Delphi consensus initiative |
dc.creator.none.fl_str_mv |
Hughes, Derralynn A. Aguiar, Patricio Deegan, Patrick B. Ezgu, Fatih Frustaci, Andrea Lidove, Olivier Linhart, Aleš Lubanda, Jean-Claude Moon, James C. Nicholls, Kathleen Niu, Dau-Ming Nowak, Albina Ramaswami, Uma Reisin, Ricardo Rozenfeld, Paula Adriana Schiffmann, Raphael Svarstad, Einar Thomas, Mark Torra, Roser Vujkovac, Bojan Warnock, David G. West, Michael L. Johnson, Jack Rolfe , Mark J. Feriozzi, Sandro |
author |
Hughes, Derralynn A. |
author_facet |
Hughes, Derralynn A. Aguiar, Patricio Deegan, Patrick B. Ezgu, Fatih Frustaci, Andrea Lidove, Olivier Linhart, Aleš Lubanda, Jean-Claude Moon, James C. Nicholls, Kathleen Niu, Dau-Ming Nowak, Albina Ramaswami, Uma Reisin, Ricardo Rozenfeld, Paula Adriana Schiffmann, Raphael Svarstad, Einar Thomas, Mark Torra, Roser Vujkovac, Bojan Warnock, David G. West, Michael L. Johnson, Jack Rolfe , Mark J. Feriozzi, Sandro |
author_role |
author |
author2 |
Aguiar, Patricio Deegan, Patrick B. Ezgu, Fatih Frustaci, Andrea Lidove, Olivier Linhart, Aleš Lubanda, Jean-Claude Moon, James C. Nicholls, Kathleen Niu, Dau-Ming Nowak, Albina Ramaswami, Uma Reisin, Ricardo Rozenfeld, Paula Adriana Schiffmann, Raphael Svarstad, Einar Thomas, Mark Torra, Roser Vujkovac, Bojan Warnock, David G. West, Michael L. Johnson, Jack Rolfe , Mark J. Feriozzi, Sandro |
author2_role |
author author author author author author author author author author author author author author author author author author author author author author author author |
dc.subject.none.fl_str_mv |
Biología Early indicators Fabry disease |
topic |
Biología Early indicators Fabry disease |
dc.description.none.fl_txt_mv |
Objectives The PRoposing Early Disease Indicators for Clinical Tracking in Fabry Disease (PREDICT-FD) initiative aimed to reach consensus among a panel of global experts on early indicators of disease progression that may justify FD-specific treatment initiation. Design and setting Anonymous feedback from panellists via online questionnaires was analysed using a modified Delphi consensus technique. Questionnaires and data were managed by an independent administrator directed by two non-voting cochairs. First, possible early indicators of renal, cardiac and central/peripheral nervous system (CNS/PNS) damage, and other disease and patient-reported indicators assessable in routine clinical practice were compiled by the cochairs and administrator from panellists’ free-text responses. Second, the panel scored indicators for importance (5-point scale: 1=not important; 5=extremely important); indicators scoring ≥3 among >75% of panellists were then rated for agreement (5-point scale: 1=strongly disagree; 5=strongly agree). Indicators awarded an agreement score ≥4 by >67% of panellists achieved consensus. Finally, any panel-proposed refinements to consensus indicator definitions were adopted if >75% of panellists agreed. Results A panel of 21 expert clinicians from 15 countries provided information from which 83 possible current indicators of damage (kidney, 15; cardiac, 15; CNS/PNS, 13; other, 16; patient reported, 24) were compiled. Of 45 indicators meeting the importance criteria, consensus was reached for 29 and consolidated as 27 indicators (kidney, 6; cardiac, 10; CNS/PNS, 2; other, 6; patient reported, 3) including: (kidney) elevated albumin:creatinine ratio, histological damage, microalbuminuria; (cardiac) markers of early systolic/diastolic dysfunction, elevated serum cardiac troponin; (CNS/PNS) neuropathic pain, gastrointestinal symptoms suggestive of gastrointestinal neuropathy; (other) pain in extremities/neuropathy, angiokeratoma; (patient-reported) febrile crises, progression of symptoms/signs. Panellists revised and approved proposed chronologies of when the consensus indicators manifest. The panel response rate was >95% at all stages. Conclusions PREDICT-FD captured global opinion regarding current clinical indicators that could prompt FD-specific treatment initiation earlier than is currently practised. Instituto de Estudios Inmunológicos y Fisiopatológicos |
description |
Objectives The PRoposing Early Disease Indicators for Clinical Tracking in Fabry Disease (PREDICT-FD) initiative aimed to reach consensus among a panel of global experts on early indicators of disease progression that may justify FD-specific treatment initiation. Design and setting Anonymous feedback from panellists via online questionnaires was analysed using a modified Delphi consensus technique. Questionnaires and data were managed by an independent administrator directed by two non-voting cochairs. First, possible early indicators of renal, cardiac and central/peripheral nervous system (CNS/PNS) damage, and other disease and patient-reported indicators assessable in routine clinical practice were compiled by the cochairs and administrator from panellists’ free-text responses. Second, the panel scored indicators for importance (5-point scale: 1=not important; 5=extremely important); indicators scoring ≥3 among >75% of panellists were then rated for agreement (5-point scale: 1=strongly disagree; 5=strongly agree). Indicators awarded an agreement score ≥4 by >67% of panellists achieved consensus. Finally, any panel-proposed refinements to consensus indicator definitions were adopted if >75% of panellists agreed. Results A panel of 21 expert clinicians from 15 countries provided information from which 83 possible current indicators of damage (kidney, 15; cardiac, 15; CNS/PNS, 13; other, 16; patient reported, 24) were compiled. Of 45 indicators meeting the importance criteria, consensus was reached for 29 and consolidated as 27 indicators (kidney, 6; cardiac, 10; CNS/PNS, 2; other, 6; patient reported, 3) including: (kidney) elevated albumin:creatinine ratio, histological damage, microalbuminuria; (cardiac) markers of early systolic/diastolic dysfunction, elevated serum cardiac troponin; (CNS/PNS) neuropathic pain, gastrointestinal symptoms suggestive of gastrointestinal neuropathy; (other) pain in extremities/neuropathy, angiokeratoma; (patient-reported) febrile crises, progression of symptoms/signs. Panellists revised and approved proposed chronologies of when the consensus indicators manifest. The panel response rate was >95% at all stages. Conclusions PREDICT-FD captured global opinion regarding current clinical indicators that could prompt FD-specific treatment initiation earlier than is currently practised. |
publishDate |
2020 |
dc.date.none.fl_str_mv |
2020 |
dc.type.none.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion Articulo http://purl.org/coar/resource_type/c_6501 info:ar-repo/semantics/articulo |
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article |
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http://sedici.unlp.edu.ar/handle/10915/119662 |
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http://sedici.unlp.edu.ar/handle/10915/119662 |
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eng |
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eng |
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info:eu-repo/semantics/altIdentifier/issn/2044-6055 info:eu-repo/semantics/altIdentifier/doi/10.1136/ bmjopen-2019-035182 |
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info:eu-repo/semantics/openAccess http://creativecommons.org/licenses/by-nc/4.0/ Creative Commons Attribution-NonCommercial 4.0 International (CC BY-NC 4.0) |
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openAccess |
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http://creativecommons.org/licenses/by-nc/4.0/ Creative Commons Attribution-NonCommercial 4.0 International (CC BY-NC 4.0) |
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