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, Ales; 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
• Materia: CARDIOMYOPATHY; CHRONIC RENAL FAILURE; GENETICS; STROKE MEDICINE
• Institución: Consejo Nacional de Investigaciones Científicas y Técnicas

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.
Fil: Hughes, Derralynn A.. Royal Free Hospital; Reino Unido. University College London; Estados Unidos
Fil: Aguiar, Patricio. North Lisbon Hospital Center; Portugal. University of Lisbon; Portugal
Fil: Deegan, Patrick B.. Addenbrooke’s Hospital; Reino Unido. University of Cambridge; Reino Unido
Fil: Ezgu, Fatih. Gazi University; Turquía
Fil: Frustaci, Andrea. Università degli Studi di Roma "La Sapienza"; Italia
Fil: Lidove, Olivier. Croix Saint Simon Hospital; Francia
Fil: Linhart, Ales. Charles University and General University Hospital; República Checa
Fil: Lubanda, Jean Claude. Charles University and General University Hospital; República Checa
Fil: Moon, James C.. Barts Heart Centrer; Reino Unido
Fil: Nicholls, Kathleen. Royal Melbourne Hospital; Australia. University of Melbourne; Australia
Fil: Niu, Dau Ming. Taipei Veterans General Hospital; República de China. National Yang-Ming University; República de China
Fil: Nowak, Albina. University Hospital Zurich; Suiza. Universitat Zurich; Suiza
Fil: Ramaswami, Uma. Royal Free Hospital; Reino Unido
Fil: Reisin, Ricardo. Hospital Británico de Buenos Aires; Argentina
Fil: Rozenfeld, Paula Adriana. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto de Estudios Inmunológicos y Fisiopatológicos. Universidad Nacional de La Plata. Facultad de Ciencias Exactas. Instituto de Estudios Inmunológicos y Fisiopatológicos; Argentina
Fil: Schiffmann, Raphael. Baylor Research Institute; Estados Unidos
Fil: Svarstad, Einar. University of Bergen; Noruega. Haukeland University Hospital; Noruega
Fil: Thomas, Mark. Royal Perth Hospital; Australia
Fil: Torra, Roser. Universitat Autònoma de Barcelona; España
Fil: Vujkovac, Bojan. General Hospital Slovenj Gradec; Eslovenia
Fil: Warnock, David G.. University of Alabama at Birmingahm; Estados Unidos
Fil: West, Michael L.. Dalhousie University Halifax; Canadá
Fil: Johnson, Jack. Fabry Support & Information Group; Estados Unidos. Fabry International Network; Bélgica
Fil: Rolfe, Mark J.. Oxford PharmaGenesis; Reino Unido
Fil: Feriozzi, Sandro. Belcolle Hospital; Italia