Cargando…

Management goals of type 1 Gaucher disease in South Africa: An expert Delphi consensus document on good clinical practice

BACKGROUND: Gaucher disease is a rare autosomal recessive glycosphingolipid storage disease that ultimately leads to reduced life expectancy. Management of Gaucher disease is challenging due to its wide genotypic and phenotypic variability and changing clinical manifestations due to effective treatm...

Descripción completa

Detalles Bibliográficos
Autores principales: Louw, Vernon Johan, Fraser, Ilanca, Giraldo, Pilar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10443848/
https://www.ncbi.nlm.nih.gov/pubmed/37607165
http://dx.doi.org/10.1371/journal.pone.0290401
_version_ 1785093925803917312
author Louw, Vernon Johan
Fraser, Ilanca
Giraldo, Pilar
author_facet Louw, Vernon Johan
Fraser, Ilanca
Giraldo, Pilar
author_sort Louw, Vernon Johan
collection PubMed
description BACKGROUND: Gaucher disease is a rare autosomal recessive glycosphingolipid storage disease that ultimately leads to reduced life expectancy. Management of Gaucher disease is challenging due to its wide genotypic and phenotypic variability and changing clinical manifestations due to effective treatment. Deliberation between experts is essential to discuss daily clinical practice and identify controversies regarding the management of Gaucher disease. The usefulness of methods like Delphi surveys is suitable for setting up consensus recommendations for different clinical scenarios. OBJECTIVES: The goal of this study was to develop an expert consensus document for the management of type 1 Gaucher disease by local experts. METHODS: A modified e-Delphi was carried out to develop an expert consensus document on the management goals of type 1 Gaucher disease in South Africa. Following a literature review and input from the steering committee, 205 management goals and best practice statements were e-mailed to an independent panel for consensus development using three rounds of voting. The panel consisted of five local healthcare practitioners with expertise in Gaucher disease. Each panelist provided independent evaluations of statements sent to them via a dedicated survey platform. Panelists indicated their level of agreement on a 9-point Likert scale (1 = absolute disagreement to 9 = absolute agreement) during each round of voting. The criteria to retain a statement in the final round were ≥80% high agreement (7–9). RESULTS: 193 statements met the consensus threshold after three rounds of voting and were included in the final guidance document. In general, the management goals presented in this paper are in line with existing literature on the subject. Additional management goals and general recommendations on sound clinical practice, obtained from more recent research and the panelists’ own clinical experience, have been included to develop a comprehensive consensus document on the management goals of type 1 Gaucher disease. CONCLUSION: This paper provides high-level guidance with respect to management goals, and the use of current therapies and adjunctive interventions in type 1 Gaucher disease to assist clinicians in their decisions about the appropriate management of patients in everyday clinical practice. These management goals and best practice statements might be used to inform an update to future South African guidelines on the disease.
format Online
Article
Text
id pubmed-10443848
institution National Center for Biotechnology Information
language English
publishDate 2023
publisher Public Library of Science
record_format MEDLINE/PubMed
spelling pubmed-104438482023-08-23 Management goals of type 1 Gaucher disease in South Africa: An expert Delphi consensus document on good clinical practice Louw, Vernon Johan Fraser, Ilanca Giraldo, Pilar PLoS One Research Article BACKGROUND: Gaucher disease is a rare autosomal recessive glycosphingolipid storage disease that ultimately leads to reduced life expectancy. Management of Gaucher disease is challenging due to its wide genotypic and phenotypic variability and changing clinical manifestations due to effective treatment. Deliberation between experts is essential to discuss daily clinical practice and identify controversies regarding the management of Gaucher disease. The usefulness of methods like Delphi surveys is suitable for setting up consensus recommendations for different clinical scenarios. OBJECTIVES: The goal of this study was to develop an expert consensus document for the management of type 1 Gaucher disease by local experts. METHODS: A modified e-Delphi was carried out to develop an expert consensus document on the management goals of type 1 Gaucher disease in South Africa. Following a literature review and input from the steering committee, 205 management goals and best practice statements were e-mailed to an independent panel for consensus development using three rounds of voting. The panel consisted of five local healthcare practitioners with expertise in Gaucher disease. Each panelist provided independent evaluations of statements sent to them via a dedicated survey platform. Panelists indicated their level of agreement on a 9-point Likert scale (1 = absolute disagreement to 9 = absolute agreement) during each round of voting. The criteria to retain a statement in the final round were ≥80% high agreement (7–9). RESULTS: 193 statements met the consensus threshold after three rounds of voting and were included in the final guidance document. In general, the management goals presented in this paper are in line with existing literature on the subject. Additional management goals and general recommendations on sound clinical practice, obtained from more recent research and the panelists’ own clinical experience, have been included to develop a comprehensive consensus document on the management goals of type 1 Gaucher disease. CONCLUSION: This paper provides high-level guidance with respect to management goals, and the use of current therapies and adjunctive interventions in type 1 Gaucher disease to assist clinicians in their decisions about the appropriate management of patients in everyday clinical practice. These management goals and best practice statements might be used to inform an update to future South African guidelines on the disease. Public Library of Science 2023-08-22 /pmc/articles/PMC10443848/ /pubmed/37607165 http://dx.doi.org/10.1371/journal.pone.0290401 Text en © 2023 Louw et al https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Research Article
Louw, Vernon Johan
Fraser, Ilanca
Giraldo, Pilar
Management goals of type 1 Gaucher disease in South Africa: An expert Delphi consensus document on good clinical practice
title Management goals of type 1 Gaucher disease in South Africa: An expert Delphi consensus document on good clinical practice
title_full Management goals of type 1 Gaucher disease in South Africa: An expert Delphi consensus document on good clinical practice
title_fullStr Management goals of type 1 Gaucher disease in South Africa: An expert Delphi consensus document on good clinical practice
title_full_unstemmed Management goals of type 1 Gaucher disease in South Africa: An expert Delphi consensus document on good clinical practice
title_short Management goals of type 1 Gaucher disease in South Africa: An expert Delphi consensus document on good clinical practice
title_sort management goals of type 1 gaucher disease in south africa: an expert delphi consensus document on good clinical practice
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10443848/
https://www.ncbi.nlm.nih.gov/pubmed/37607165
http://dx.doi.org/10.1371/journal.pone.0290401
work_keys_str_mv AT louwvernonjohan managementgoalsoftype1gaucherdiseaseinsouthafricaanexpertdelphiconsensusdocumentongoodclinicalpractice
AT fraserilanca managementgoalsoftype1gaucherdiseaseinsouthafricaanexpertdelphiconsensusdocumentongoodclinicalpractice
AT giraldopilar managementgoalsoftype1gaucherdiseaseinsouthafricaanexpertdelphiconsensusdocumentongoodclinicalpractice