Background: Acute porphyrias are a group of rare inherited disorders causing acute neurovisceral attacks. Many terms used frequently in the literature and in clinical practice are ambiguous, which can lead to confusion in the way patients are managed, studied, and reported in clinical studies. Agreed definitions are a necessary first step in developing management guidelines and will facilitate communication of results of future clinical research. Methods: The Delphi method was used to generate consensus on key terms and definitions in acute porphyria. The process started with a brainstorming phase offered to all members of the European Porphyria Network followed by 2 Delphi rounds among international experts in the field of porphyria (the Acute Porphyria Expert Panel). A consensus of 75% or more was defined as the agreement threshold. Results: 63 respondents from 26 countries participated in the brainstorming phase, leading to the choice of 9 terms and definitions. 34 experts were invited to take part in the Delphi rounds. 7 of the initial 9 terms and definitions which entered the first Delphi round achieved the threshold for agreement. Following a second Delphi round, all 9 definitions achieved agreement. Conclusion: Agreement on the definitions for 9 important terms describing acute porphyrias represents a significant step forward for the porphyria community. It will facilitate more accurate comparison of outcomes among porphyria centres and in clinical trials and provide a strong framework for developing evidence based clinical guidelines.

Background: Acute porphyrias are a group of rare inherited disorders causing acute neurovisceral attacks. Many terms used frequently in the literature and in clinical practice are ambiguous, which can lead to confusion in the way patients are managed, studied, and reported in clinical studies. Agreed definitions are a necessary first step in developing management guidelines and will facilitate communication of results of future clinical research. Methods: The Delphi method was used to generate consensus on key terms and definitions in acute porphyria. The process started with a brainstorming phase offered to all members of the European Porphyria Network followed by 2 Delphi rounds among international experts in the field of porphyria (the Acute Porphyria Expert Panel). A consensus of 75% or more was defined as the agreement threshold. Results: 63 respondents from 26 countries participated in the brainstorming phase, leading to the choice of 9 terms and definitions. 34 experts were invited to take part in the Delphi rounds. 7 of the initial 9 terms and definitions which entered the first Delphi round achieved the threshold for agreement. Following a second Delphi round, all 9 definitions achieved agreement. Conclusion: Agreement on the definitions for 9 important terms describing acute porphyrias represents a significant step forward for the porphyria community. It will facilitate more accurate comparison of outcomes among porphyria centres and in clinical trials and provide a strong framework for developing evidence based clinical guidelines.

Key Terms and Definitions in Acute Porphyrias: Results of an International Delphi Consensus Led by the European Porphyria Network / Stein, Penelope E; Edel, Yonatan; Mansour, Razan; Mustafa, Reem A; Sandberg, Sverre; Aarsand, Aasne; Anderson, K. E; Badminton, M; Balwani, M; Bonkovsky, H; Cappellini, M. D; Cassiman, D; Deybach, Jc; Gill, G; Gouya, L; Harper, P; Hift, R; Ivanova, A; Langendonk, J; Naik, H; Marcacci, M; Pischik, E; Rees, D; Sardh, E; Schmitt, C; Sonderup, M; Stolzel, U; To-Figueroas, J; Ventura, P; Wang, B; Weiler-Normann, C; Whatley, S; Wilson, P. - In: JOURNAL OF INHERITED METABOLIC DISEASE. - ISSN 0141-8955. - 46:4(2023), pp. 662-674. [10.1002/jimd.12612]

Key Terms and Definitions in Acute Porphyrias: Results of an International Delphi Consensus Led by the European Porphyria Network

Cappellini, M. D;Marcacci M
Membro del Collaboration Group
;
Ventura, P
Writing – Review & Editing
;
2023

Abstract

Background: Acute porphyrias are a group of rare inherited disorders causing acute neurovisceral attacks. Many terms used frequently in the literature and in clinical practice are ambiguous, which can lead to confusion in the way patients are managed, studied, and reported in clinical studies. Agreed definitions are a necessary first step in developing management guidelines and will facilitate communication of results of future clinical research. Methods: The Delphi method was used to generate consensus on key terms and definitions in acute porphyria. The process started with a brainstorming phase offered to all members of the European Porphyria Network followed by 2 Delphi rounds among international experts in the field of porphyria (the Acute Porphyria Expert Panel). A consensus of 75% or more was defined as the agreement threshold. Results: 63 respondents from 26 countries participated in the brainstorming phase, leading to the choice of 9 terms and definitions. 34 experts were invited to take part in the Delphi rounds. 7 of the initial 9 terms and definitions which entered the first Delphi round achieved the threshold for agreement. Following a second Delphi round, all 9 definitions achieved agreement. Conclusion: Agreement on the definitions for 9 important terms describing acute porphyrias represents a significant step forward for the porphyria community. It will facilitate more accurate comparison of outcomes among porphyria centres and in clinical trials and provide a strong framework for developing evidence based clinical guidelines.
2023
17-apr-2023
46
4
662
674
Key Terms and Definitions in Acute Porphyrias: Results of an International Delphi Consensus Led by the European Porphyria Network / Stein, Penelope E; Edel, Yonatan; Mansour, Razan; Mustafa, Reem A; Sandberg, Sverre; Aarsand, Aasne; Anderson, K. E; Badminton, M; Balwani, M; Bonkovsky, H; Cappellini, M. D; Cassiman, D; Deybach, Jc; Gill, G; Gouya, L; Harper, P; Hift, R; Ivanova, A; Langendonk, J; Naik, H; Marcacci, M; Pischik, E; Rees, D; Sardh, E; Schmitt, C; Sonderup, M; Stolzel, U; To-Figueroas, J; Ventura, P; Wang, B; Weiler-Normann, C; Whatley, S; Wilson, P. - In: JOURNAL OF INHERITED METABOLIC DISEASE. - ISSN 0141-8955. - 46:4(2023), pp. 662-674. [10.1002/jimd.12612]
Stein, Penelope E; Edel, Yonatan; Mansour, Razan; Mustafa, Reem A; Sandberg, Sverre; Aarsand, Aasne; Anderson, K. E; Badminton, M; Balwani, M; Bonkovsky, H; Cappellini, M. D; Cassiman, D; Deybach, Jc; Gill, G; Gouya, L; Harper, P; Hift, R; Ivanova, A; Langendonk, J; Naik, H; Marcacci, M; Pischik, E; Rees, D; Sardh, E; Schmitt, C; Sonderup, M; Stolzel, U; To-Figueroas, J; Ventura, P; Wang, B; Weiler-Normann, C; Whatley, S; Wilson, P
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