Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat : a modified Delphi study
Autor(a) principal: | |
---|---|
Data de Publicação: | 2023 |
Outros Autores: | , , , , , , , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UFRGS |
Texto Completo: | http://hdl.handle.net/10183/273836 |
Resumo: | Objective: Fabry disease is a progressive disorder caused by deficiency of the α-galactosidase A enzyme (α-Gal A), leading to multisystemic organ damage with heterogenous clinical presentation. The addition of the oral chaperone therapy migalastat to the available treatment options for Fabry disease is not yet universally reflected in all treatment guidelines. These consensus recommendations are intended to provide guidance for the treatment and monitoring of patients with Fabry disease receiving migalastat. Methods: A modified Delphi process was conducted to determine consensus on treatment decisions and monitoring of patients with Fabry disease receiving migalastat. The multidisciplinary panel comprised 14 expert physicians across nine specialties and two patients with Fabry disease. Two rounds of Delphi surveys were completed and recommendations on the use of biomarkers, multidisciplinary monitoring, and treatment decisions were generated based on statements that reached consensus. Results: The expert panel reached consensus agreement on 49 of 54 statements, including 16 that reached consensus in round 1. Statements that reached consensus agreement are summarized in recommendations for migalastat treatment and monitoring, including baseline and follow-up assessments and frequency. All patients with Fabry disease and an amenable mutation may initiate migalastat treatment if they have evidence of Fabry-related symptoms and/or organ involvement. Treatment decisions should include holistic assessment of the patient, considering clinical symptoms and organ involvement as well as patient-reported outcomes and patient preference. The reliability of α-Gal A and globotriaosylsphingosine as pharmacodynamic response biomarkers remains unclear. Conclusion: These recommendations build on previously published guidelines to highlight the importance of holistic, multidisciplinary monitoring for patients with Fabry disease receiving migalastat, in addition to shared decision-making regarding treatments and monitoring throughout the patient journey. |
id |
UFRGS-2_a53c635095c0214b3d9742323e5915cb |
---|---|
oai_identifier_str |
oai:www.lume.ufrgs.br:10183/273836 |
network_acronym_str |
UFRGS-2 |
network_name_str |
Repositório Institucional da UFRGS |
repository_id_str |
|
spelling |
Bichet, Daniel G.Hopkin, Robert J.Aguiar, PatrícioAllam , Sridhar R.Chien, Yin-HsiuGiugliani, RobertoKallish, StaciKineen, SabinaLidove, OlivierNiu, DaumingOlivotto, IacopoPolitei, Juan ManuelRakoski, PaulTorra, RoserTondel, CamillaHughes, Derralynn A.2024-03-19T05:05:30Z20232296-858Xhttp://hdl.handle.net/10183/273836001198121Objective: Fabry disease is a progressive disorder caused by deficiency of the α-galactosidase A enzyme (α-Gal A), leading to multisystemic organ damage with heterogenous clinical presentation. The addition of the oral chaperone therapy migalastat to the available treatment options for Fabry disease is not yet universally reflected in all treatment guidelines. These consensus recommendations are intended to provide guidance for the treatment and monitoring of patients with Fabry disease receiving migalastat. Methods: A modified Delphi process was conducted to determine consensus on treatment decisions and monitoring of patients with Fabry disease receiving migalastat. The multidisciplinary panel comprised 14 expert physicians across nine specialties and two patients with Fabry disease. Two rounds of Delphi surveys were completed and recommendations on the use of biomarkers, multidisciplinary monitoring, and treatment decisions were generated based on statements that reached consensus. Results: The expert panel reached consensus agreement on 49 of 54 statements, including 16 that reached consensus in round 1. Statements that reached consensus agreement are summarized in recommendations for migalastat treatment and monitoring, including baseline and follow-up assessments and frequency. All patients with Fabry disease and an amenable mutation may initiate migalastat treatment if they have evidence of Fabry-related symptoms and/or organ involvement. Treatment decisions should include holistic assessment of the patient, considering clinical symptoms and organ involvement as well as patient-reported outcomes and patient preference. The reliability of α-Gal A and globotriaosylsphingosine as pharmacodynamic response biomarkers remains unclear. Conclusion: These recommendations build on previously published guidelines to highlight the importance of holistic, multidisciplinary monitoring for patients with Fabry disease receiving migalastat, in addition to shared decision-making regarding treatments and monitoring throughout the patient journey.application/pdfengFrontiers in medicine. Lausanne, Switzerland. Vol. 10 (Sept. 2023), 1220637, 19 p.Alfa-galactosidaseChaperonas molecularesDoença de FabryChaperone therapyAlpha-galactosidase AGlobotriaosylsphingosineAmenabilityTreatment decisionsPatient journeyConsensus recommendations for the treatment and management of patients with Fabry disease on migalastat : a modified Delphi studyEstrangeiroinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UFRGSinstname:Universidade Federal do Rio Grande do Sul (UFRGS)instacron:UFRGSTEXT001198121.pdf.txt001198121.pdf.txtExtracted Texttext/plain95392http://www.lume.ufrgs.br/bitstream/10183/273836/2/001198121.pdf.txt09fdbadbe3db89d1d69d048f3598671bMD52ORIGINAL001198121.pdfTexto completo (inglês)application/pdf2415089http://www.lume.ufrgs.br/bitstream/10183/273836/1/001198121.pdf53c65f63742bdb84d4e7cab03b5db552MD5110183/2738362024-03-20 04:50:06.953683oai:www.lume.ufrgs.br:10183/273836Repositório de PublicaçõesPUBhttps://lume.ufrgs.br/oai/requestopendoar:2024-03-20T07:50:06Repositório Institucional da UFRGS - Universidade Federal do Rio Grande do Sul (UFRGS)false |
dc.title.pt_BR.fl_str_mv |
Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat : a modified Delphi study |
title |
Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat : a modified Delphi study |
spellingShingle |
Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat : a modified Delphi study Bichet, Daniel G. Alfa-galactosidase Chaperonas moleculares Doença de Fabry Chaperone therapy Alpha-galactosidase A Globotriaosylsphingosine Amenability Treatment decisions Patient journey |
title_short |
Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat : a modified Delphi study |
title_full |
Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat : a modified Delphi study |
title_fullStr |
Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat : a modified Delphi study |
title_full_unstemmed |
Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat : a modified Delphi study |
title_sort |
Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat : a modified Delphi study |
author |
Bichet, Daniel G. |
author_facet |
Bichet, Daniel G. Hopkin, Robert J. Aguiar, Patrício Allam , Sridhar R. Chien, Yin-Hsiu Giugliani, Roberto Kallish, Staci Kineen, Sabina Lidove, Olivier Niu, Dauming Olivotto, Iacopo Politei, Juan Manuel Rakoski, Paul Torra, Roser Tondel, Camilla Hughes, Derralynn A. |
author_role |
author |
author2 |
Hopkin, Robert J. Aguiar, Patrício Allam , Sridhar R. Chien, Yin-Hsiu Giugliani, Roberto Kallish, Staci Kineen, Sabina Lidove, Olivier Niu, Dauming Olivotto, Iacopo Politei, Juan Manuel Rakoski, Paul Torra, Roser Tondel, Camilla Hughes, Derralynn A. |
author2_role |
author author author author author author author author author author author author author author author |
dc.contributor.author.fl_str_mv |
Bichet, Daniel G. Hopkin, Robert J. Aguiar, Patrício Allam , Sridhar R. Chien, Yin-Hsiu Giugliani, Roberto Kallish, Staci Kineen, Sabina Lidove, Olivier Niu, Dauming Olivotto, Iacopo Politei, Juan Manuel Rakoski, Paul Torra, Roser Tondel, Camilla Hughes, Derralynn A. |
dc.subject.por.fl_str_mv |
Alfa-galactosidase Chaperonas moleculares Doença de Fabry |
topic |
Alfa-galactosidase Chaperonas moleculares Doença de Fabry Chaperone therapy Alpha-galactosidase A Globotriaosylsphingosine Amenability Treatment decisions Patient journey |
dc.subject.eng.fl_str_mv |
Chaperone therapy Alpha-galactosidase A Globotriaosylsphingosine Amenability Treatment decisions Patient journey |
description |
Objective: Fabry disease is a progressive disorder caused by deficiency of the α-galactosidase A enzyme (α-Gal A), leading to multisystemic organ damage with heterogenous clinical presentation. The addition of the oral chaperone therapy migalastat to the available treatment options for Fabry disease is not yet universally reflected in all treatment guidelines. These consensus recommendations are intended to provide guidance for the treatment and monitoring of patients with Fabry disease receiving migalastat. Methods: A modified Delphi process was conducted to determine consensus on treatment decisions and monitoring of patients with Fabry disease receiving migalastat. The multidisciplinary panel comprised 14 expert physicians across nine specialties and two patients with Fabry disease. Two rounds of Delphi surveys were completed and recommendations on the use of biomarkers, multidisciplinary monitoring, and treatment decisions were generated based on statements that reached consensus. Results: The expert panel reached consensus agreement on 49 of 54 statements, including 16 that reached consensus in round 1. Statements that reached consensus agreement are summarized in recommendations for migalastat treatment and monitoring, including baseline and follow-up assessments and frequency. All patients with Fabry disease and an amenable mutation may initiate migalastat treatment if they have evidence of Fabry-related symptoms and/or organ involvement. Treatment decisions should include holistic assessment of the patient, considering clinical symptoms and organ involvement as well as patient-reported outcomes and patient preference. The reliability of α-Gal A and globotriaosylsphingosine as pharmacodynamic response biomarkers remains unclear. Conclusion: These recommendations build on previously published guidelines to highlight the importance of holistic, multidisciplinary monitoring for patients with Fabry disease receiving migalastat, in addition to shared decision-making regarding treatments and monitoring throughout the patient journey. |
publishDate |
2023 |
dc.date.issued.fl_str_mv |
2023 |
dc.date.accessioned.fl_str_mv |
2024-03-19T05:05:30Z |
dc.type.driver.fl_str_mv |
Estrangeiro info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10183/273836 |
dc.identifier.issn.pt_BR.fl_str_mv |
2296-858X |
dc.identifier.nrb.pt_BR.fl_str_mv |
001198121 |
identifier_str_mv |
2296-858X 001198121 |
url |
http://hdl.handle.net/10183/273836 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.ispartof.pt_BR.fl_str_mv |
Frontiers in medicine. Lausanne, Switzerland. Vol. 10 (Sept. 2023), 1220637, 19 p. |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.source.none.fl_str_mv |
reponame:Repositório Institucional da UFRGS instname:Universidade Federal do Rio Grande do Sul (UFRGS) instacron:UFRGS |
instname_str |
Universidade Federal do Rio Grande do Sul (UFRGS) |
instacron_str |
UFRGS |
institution |
UFRGS |
reponame_str |
Repositório Institucional da UFRGS |
collection |
Repositório Institucional da UFRGS |
bitstream.url.fl_str_mv |
http://www.lume.ufrgs.br/bitstream/10183/273836/2/001198121.pdf.txt http://www.lume.ufrgs.br/bitstream/10183/273836/1/001198121.pdf |
bitstream.checksum.fl_str_mv |
09fdbadbe3db89d1d69d048f3598671b 53c65f63742bdb84d4e7cab03b5db552 |
bitstream.checksumAlgorithm.fl_str_mv |
MD5 MD5 |
repository.name.fl_str_mv |
Repositório Institucional da UFRGS - Universidade Federal do Rio Grande do Sul (UFRGS) |
repository.mail.fl_str_mv |
|
_version_ |
1801225114429161472 |