European expert consensus statement on therapeutic goals in Fabry disease

Christoph Wanner; Michael Arad; Ralf Baron; Alessandro Burlina; Perry M Elliott; Ulla Feldt-Rasmussen; Victor V Fomin; Dominique P Germain; Derralynn A Hughes; Ana Jovanovic; Ilkka Kantola; Aleš Linhart; Renzo Mignani; Lorenzo Monserrat; Mehdi Namdar; Albina Nowak; João-Paulo Oliveira; Alberto Ortiz; Maurizio Pieroni; Marco Spada; Anna Tylki-Szymańska; Camilla Tøndel; Miguel Viana-Baptista; Frank Weidemann; Max J Hilz

doi:10.1016/j.ymgme.2018.06.004

European expert consensus statement on therapeutic goals in Fabry disease

Christoph Wanner, Michael Arad, Ralf Baron, Alessandro Burlina, Perry M Elliott, Ulla Feldt-Rasmussen, Victor V Fomin, Dominique P Germain, Derralynn A Hughes, Ana Jovanovic, Ilkka Kantola, Aleš Linhart, Renzo Mignani, Lorenzo Monserrat, Mehdi Namdar, Albina Nowak, João-Paulo Oliveira, Alberto Ortiz, Maurizio Pieroni, Marco SpadaAnna Tylki-Szymańska, Camilla Tøndel, Miguel Viana-Baptista, Frank Weidemann, Max J Hilz

Department of Clinical Medicine

43 Citations (Scopus)

Abstract

BACKGROUND: Fabry disease, an inherited lysosomal storage disorder, causes multi-organ pathology resulting in substantial morbidity and a reduced life expectancy. Although Fabry disease is an X-linked disorder, both genders may be affected, but generally to a lesser extent in females. The disease spectrum ranges from classic early-onset disease to non-classic later-onset phenotypes, with complications occurring in multiple organs or being confined to a single organ system depending on the stage of the disease. The impact of therapy depends upon patient- and disease-specific factors and timing of initiation.

METHODS: A European panel of experts collaborated to develop a set of organ-specific therapeutic goals for Fabry disease, based on evidence identified in a recent systematic literature review and consensus opinion.

RESULTS: A series of organ-specific treatment goals were developed. For each organ system, optimal treatment strategies accounted for inter-patient differences in disease severity, natural history, and treatment responses as well as the negative burden of therapy and the importance of multidisciplinary care. The consensus therapeutic goals and proposed patient management algorithm take into account the need for early disease-specific therapy to delay or slow the progression of disease as well as non-specific adjunctive therapies that prevent or treat the effects of organ damage on quality of life and long-term prognosis.

CONCLUSIONS: These consensus recommendations help advance Fabry disease management by considering the balance between anticipated clinical benefits and potential therapy-related challenges in order to facilitate individualized treatment, optimize patient care and improve quality of life.

Original language	English
Journal	Molecular Genetics and Metabolism
Volume	124
Issue number	3
Pages (from-to)	189-203
Number of pages	15
ISSN	1096-7192
DOIs	https://doi.org/10.1016/j.ymgme.2018.06.004
Publication status	Published - Jul 2018

Keywords

Consensus
Enzyme Replacement Therapy/standards
Europe
Expert Testimony
Fabry Disease/therapy
Humans

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Access to Document

10.1016/j.ymgme.2018.06.004

Cite this

Wanner, C., Arad, M., Baron, R., Burlina, A., Elliott, P. M., Feldt-Rasmussen, U., Fomin, V. V., Germain, D. P., Hughes, D. A., Jovanovic, A., Kantola, I., Linhart, A., Mignani, R., Monserrat, L., Namdar, M., Nowak, A., Oliveira, J-P., Ortiz, A., Pieroni, M., ... Hilz, M. J. (2018). European expert consensus statement on therapeutic goals in Fabry disease. Molecular Genetics and Metabolism, 124(3), 189-203. https://doi.org/10.1016/j.ymgme.2018.06.004

Wanner, C, Arad, M, Baron, R, Burlina, A, Elliott, PM, Feldt-Rasmussen, U, Fomin, VV, Germain, DP, Hughes, DA, Jovanovic, A, Kantola, I, Linhart, A, Mignani, R, Monserrat, L, Namdar, M, Nowak, A, Oliveira, J-P, Ortiz, A, Pieroni, M, Spada, M, Tylki-Szymańska, A, Tøndel, C, Viana-Baptista, M, Weidemann, F & Hilz, MJ 2018, 'European expert consensus statement on therapeutic goals in Fabry disease', Molecular Genetics and Metabolism, vol. 124, no. 3, pp. 189-203. https://doi.org/10.1016/j.ymgme.2018.06.004

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title = "European expert consensus statement on therapeutic goals in Fabry disease",

abstract = "BACKGROUND: Fabry disease, an inherited lysosomal storage disorder, causes multi-organ pathology resulting in substantial morbidity and a reduced life expectancy. Although Fabry disease is an X-linked disorder, both genders may be affected, but generally to a lesser extent in females. The disease spectrum ranges from classic early-onset disease to non-classic later-onset phenotypes, with complications occurring in multiple organs or being confined to a single organ system depending on the stage of the disease. The impact of therapy depends upon patient- and disease-specific factors and timing of initiation.METHODS: A European panel of experts collaborated to develop a set of organ-specific therapeutic goals for Fabry disease, based on evidence identified in a recent systematic literature review and consensus opinion.RESULTS: A series of organ-specific treatment goals were developed. For each organ system, optimal treatment strategies accounted for inter-patient differences in disease severity, natural history, and treatment responses as well as the negative burden of therapy and the importance of multidisciplinary care. The consensus therapeutic goals and proposed patient management algorithm take into account the need for early disease-specific therapy to delay or slow the progression of disease as well as non-specific adjunctive therapies that prevent or treat the effects of organ damage on quality of life and long-term prognosis.CONCLUSIONS: These consensus recommendations help advance Fabry disease management by considering the balance between anticipated clinical benefits and potential therapy-related challenges in order to facilitate individualized treatment, optimize patient care and improve quality of life.",

keywords = "Consensus, Enzyme Replacement Therapy/standards, Europe, Expert Testimony, Fabry Disease/therapy, Humans",

author = "Christoph Wanner and Michael Arad and Ralf Baron and Alessandro Burlina and Elliott, {Perry M} and Ulla Feldt-Rasmussen and Fomin, {Victor V} and Germain, {Dominique P} and Hughes, {Derralynn A} and Ana Jovanovic and Ilkka Kantola and Ale{\v s} Linhart and Renzo Mignani and Lorenzo Monserrat and Mehdi Namdar and Albina Nowak and Jo{\~a}o-Paulo Oliveira and Alberto Ortiz and Maurizio Pieroni and Marco Spada and Anna Tylki-Szyma{\'n}ska and Camilla T{\o}ndel and Miguel Viana-Baptista and Frank Weidemann and Hilz, {Max J}",

year = "2018",

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doi = "10.1016/j.ymgme.2018.06.004",

language = "English",

volume = "124",

pages = "189--203",

journal = "Molecular Genetics and Metabolism",

issn = "1096-7192",

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TY - JOUR

T1 - European expert consensus statement on therapeutic goals in Fabry disease

AU - Wanner, Christoph

AU - Arad, Michael

AU - Baron, Ralf

AU - Burlina, Alessandro

AU - Elliott, Perry M

AU - Feldt-Rasmussen, Ulla

AU - Fomin, Victor V

AU - Germain, Dominique P

AU - Hughes, Derralynn A

AU - Jovanovic, Ana

AU - Kantola, Ilkka

AU - Linhart, Aleš

AU - Mignani, Renzo

AU - Monserrat, Lorenzo

AU - Namdar, Mehdi

AU - Nowak, Albina

AU - Oliveira, João-Paulo

AU - Ortiz, Alberto

AU - Pieroni, Maurizio

AU - Spada, Marco

AU - Tylki-Szymańska, Anna

AU - Tøndel, Camilla

AU - Viana-Baptista, Miguel

AU - Weidemann, Frank

AU - Hilz, Max J

PY - 2018/7

Y1 - 2018/7

N2 - BACKGROUND: Fabry disease, an inherited lysosomal storage disorder, causes multi-organ pathology resulting in substantial morbidity and a reduced life expectancy. Although Fabry disease is an X-linked disorder, both genders may be affected, but generally to a lesser extent in females. The disease spectrum ranges from classic early-onset disease to non-classic later-onset phenotypes, with complications occurring in multiple organs or being confined to a single organ system depending on the stage of the disease. The impact of therapy depends upon patient- and disease-specific factors and timing of initiation.METHODS: A European panel of experts collaborated to develop a set of organ-specific therapeutic goals for Fabry disease, based on evidence identified in a recent systematic literature review and consensus opinion.RESULTS: A series of organ-specific treatment goals were developed. For each organ system, optimal treatment strategies accounted for inter-patient differences in disease severity, natural history, and treatment responses as well as the negative burden of therapy and the importance of multidisciplinary care. The consensus therapeutic goals and proposed patient management algorithm take into account the need for early disease-specific therapy to delay or slow the progression of disease as well as non-specific adjunctive therapies that prevent or treat the effects of organ damage on quality of life and long-term prognosis.CONCLUSIONS: These consensus recommendations help advance Fabry disease management by considering the balance between anticipated clinical benefits and potential therapy-related challenges in order to facilitate individualized treatment, optimize patient care and improve quality of life.

AB - BACKGROUND: Fabry disease, an inherited lysosomal storage disorder, causes multi-organ pathology resulting in substantial morbidity and a reduced life expectancy. Although Fabry disease is an X-linked disorder, both genders may be affected, but generally to a lesser extent in females. The disease spectrum ranges from classic early-onset disease to non-classic later-onset phenotypes, with complications occurring in multiple organs or being confined to a single organ system depending on the stage of the disease. The impact of therapy depends upon patient- and disease-specific factors and timing of initiation.METHODS: A European panel of experts collaborated to develop a set of organ-specific therapeutic goals for Fabry disease, based on evidence identified in a recent systematic literature review and consensus opinion.RESULTS: A series of organ-specific treatment goals were developed. For each organ system, optimal treatment strategies accounted for inter-patient differences in disease severity, natural history, and treatment responses as well as the negative burden of therapy and the importance of multidisciplinary care. The consensus therapeutic goals and proposed patient management algorithm take into account the need for early disease-specific therapy to delay or slow the progression of disease as well as non-specific adjunctive therapies that prevent or treat the effects of organ damage on quality of life and long-term prognosis.CONCLUSIONS: These consensus recommendations help advance Fabry disease management by considering the balance between anticipated clinical benefits and potential therapy-related challenges in order to facilitate individualized treatment, optimize patient care and improve quality of life.

KW - Consensus

KW - Enzyme Replacement Therapy/standards

KW - Europe

KW - Expert Testimony

KW - Fabry Disease/therapy

KW - Humans

U2 - 10.1016/j.ymgme.2018.06.004

DO - 10.1016/j.ymgme.2018.06.004

M3 - Review

C2 - 30017653

SN - 1096-7192

VL - 124

SP - 189

EP - 203

JO - Molecular Genetics and Metabolism

JF - Molecular Genetics and Metabolism

IS - 3

ER -

European expert consensus statement on therapeutic goals in Fabry disease

Abstract

Keywords

UN SDGs

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