Italian national consensus statement on management and pharmacological treatment of phenylketonuria

Abstract Background Phenylketonuria (PKU) is a rare inherited metabolic disorder caused by defects in the phenylalanine-hydroxylase gene (PAH), the enzyme catalyzing the conversion of phenylalanine to tyrosine. PAH impairment causes phenylalanine accumulation in the blood and brain, with a broad spe...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Alberto Burlina, Giacomo Biasucci, Maria Teresa Carbone, Chiara Cazzorla, Sabrina Paci, Francesca Pochiero, Marco Spada, Albina Tummolo, Juri Zuvadelli, Vincenzo Leuzzi
Formato:	article
Lenguaje:	EN
Publicado:	BMC 2021
Materias:	Phenylketonuria Italian consensus Transition Pharmacotherapy tailoring BH4 test Sapropterin Medicine R
Acceso en línea:	https://doaj.org/article/93b917db1d7147fb934d0c76f2d07494
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:93b917db1d7147fb934d0c76f2d07494
record_format	dspace
spelling	oai:doaj.org-article:93b917db1d7147fb934d0c76f2d074942021-11-21T12:26:02ZItalian national consensus statement on management and pharmacological treatment of phenylketonuria10.1186/s13023-021-02086-81750-1172https://doaj.org/article/93b917db1d7147fb934d0c76f2d074942021-11-01T00:00:00Zhttps://doi.org/10.1186/s13023-021-02086-8https://doaj.org/toc/1750-1172Abstract Background Phenylketonuria (PKU) is a rare inherited metabolic disorder caused by defects in the phenylalanine-hydroxylase gene (PAH), the enzyme catalyzing the conversion of phenylalanine to tyrosine. PAH impairment causes phenylalanine accumulation in the blood and brain, with a broad spectrum of pathophysiological and neurological consequences for patients. Prevalence of disease varies, with peaks in some regions and countries, including Italy. A recent expert survey described the real-life of clinical practice for PKU in Italy, revealing inhomogeneities in disease management, particularly concerning approach to pharmacotherapy with sapropterin hydrochloride, analogous of the natural PAH co-factor, allowing disease control in a subset of patients. Therefore, the purpose of this paper is to continue the work initiated with the expert survey paper, to provide national guidances aiming to harmonize and optimize patient care at a national level. Participants The Consensus Group, convened by 10 Steering Committee members, consisted of a multidisciplinary crowd of 46 experts in the management of PKU in Italy. Consensus process The Steering Committee met in a series of virtual meeting in order to discuss on clinical focuses to be developed and analyzed in guidance statements, on the basis of expert practice based evidence, large systematic literature review previously performed in the expert survey paper, and evidence based consensus published. Statements were re-discussed and refined during consensus conferences in the widest audience of experts, and finally submitted to the whole consensus group for a modified-Delphi voting. Results Seventy three statements, divided in two main clinical areas, PKU management and Pharmacotherapy, achieved large consensus in a multidisciplinary group of expert in different aspects of disease. Importantly, these statements involve guidances for the use of sapropterin dihydrochloride, still not sufficiently implemented in Italy, and a set of good practice to approach the use of novel enzyme replacement treatment pegvaliase. Conclusions This evidence-based consensus provides a minimum set of guidances for disease management to be implemented in all PKU centers. Moreover, these guidances represent the first statement for sapropterin dihydrochloride use, implementation and standardization in Italy, and a guide for approaching pegvaliase treatment at a national level on a consistent basis.Alberto BurlinaGiacomo BiasucciMaria Teresa CarboneChiara CazzorlaSabrina PaciFrancesca PochieroMarco SpadaAlbina TummoloJuri ZuvadelliVincenzo LeuzziBMCarticlePhenylketonuriaItalian consensusTransitionPharmacotherapy tailoringBH4 testSapropterinMedicineRENOrphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-18 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Phenylketonuria Italian consensus Transition Pharmacotherapy tailoring BH4 test Sapropterin Medicine R
spellingShingle	Phenylketonuria Italian consensus Transition Pharmacotherapy tailoring BH4 test Sapropterin Medicine R Alberto Burlina Giacomo Biasucci Maria Teresa Carbone Chiara Cazzorla Sabrina Paci Francesca Pochiero Marco Spada Albina Tummolo Juri Zuvadelli Vincenzo Leuzzi Italian national consensus statement on management and pharmacological treatment of phenylketonuria
description	Abstract Background Phenylketonuria (PKU) is a rare inherited metabolic disorder caused by defects in the phenylalanine-hydroxylase gene (PAH), the enzyme catalyzing the conversion of phenylalanine to tyrosine. PAH impairment causes phenylalanine accumulation in the blood and brain, with a broad spectrum of pathophysiological and neurological consequences for patients. Prevalence of disease varies, with peaks in some regions and countries, including Italy. A recent expert survey described the real-life of clinical practice for PKU in Italy, revealing inhomogeneities in disease management, particularly concerning approach to pharmacotherapy with sapropterin hydrochloride, analogous of the natural PAH co-factor, allowing disease control in a subset of patients. Therefore, the purpose of this paper is to continue the work initiated with the expert survey paper, to provide national guidances aiming to harmonize and optimize patient care at a national level. Participants The Consensus Group, convened by 10 Steering Committee members, consisted of a multidisciplinary crowd of 46 experts in the management of PKU in Italy. Consensus process The Steering Committee met in a series of virtual meeting in order to discuss on clinical focuses to be developed and analyzed in guidance statements, on the basis of expert practice based evidence, large systematic literature review previously performed in the expert survey paper, and evidence based consensus published. Statements were re-discussed and refined during consensus conferences in the widest audience of experts, and finally submitted to the whole consensus group for a modified-Delphi voting. Results Seventy three statements, divided in two main clinical areas, PKU management and Pharmacotherapy, achieved large consensus in a multidisciplinary group of expert in different aspects of disease. Importantly, these statements involve guidances for the use of sapropterin dihydrochloride, still not sufficiently implemented in Italy, and a set of good practice to approach the use of novel enzyme replacement treatment pegvaliase. Conclusions This evidence-based consensus provides a minimum set of guidances for disease management to be implemented in all PKU centers. Moreover, these guidances represent the first statement for sapropterin dihydrochloride use, implementation and standardization in Italy, and a guide for approaching pegvaliase treatment at a national level on a consistent basis.
format	article
author	Alberto Burlina Giacomo Biasucci Maria Teresa Carbone Chiara Cazzorla Sabrina Paci Francesca Pochiero Marco Spada Albina Tummolo Juri Zuvadelli Vincenzo Leuzzi
author_facet	Alberto Burlina Giacomo Biasucci Maria Teresa Carbone Chiara Cazzorla Sabrina Paci Francesca Pochiero Marco Spada Albina Tummolo Juri Zuvadelli Vincenzo Leuzzi
author_sort	Alberto Burlina
title	Italian national consensus statement on management and pharmacological treatment of phenylketonuria
title_short	Italian national consensus statement on management and pharmacological treatment of phenylketonuria
title_full	Italian national consensus statement on management and pharmacological treatment of phenylketonuria
title_fullStr	Italian national consensus statement on management and pharmacological treatment of phenylketonuria
title_full_unstemmed	Italian national consensus statement on management and pharmacological treatment of phenylketonuria
title_sort	italian national consensus statement on management and pharmacological treatment of phenylketonuria
publisher	BMC
publishDate	2021
url	https://doaj.org/article/93b917db1d7147fb934d0c76f2d07494
work_keys_str_mv	AT albertoburlina italiannationalconsensusstatementonmanagementandpharmacologicaltreatmentofphenylketonuria AT giacomobiasucci italiannationalconsensusstatementonmanagementandpharmacologicaltreatmentofphenylketonuria AT mariateresacarbone italiannationalconsensusstatementonmanagementandpharmacologicaltreatmentofphenylketonuria AT chiaracazzorla italiannationalconsensusstatementonmanagementandpharmacologicaltreatmentofphenylketonuria AT sabrinapaci italiannationalconsensusstatementonmanagementandpharmacologicaltreatmentofphenylketonuria AT francescapochiero italiannationalconsensusstatementonmanagementandpharmacologicaltreatmentofphenylketonuria AT marcospada italiannationalconsensusstatementonmanagementandpharmacologicaltreatmentofphenylketonuria AT albinatummolo italiannationalconsensusstatementonmanagementandpharmacologicaltreatmentofphenylketonuria AT jurizuvadelli italiannationalconsensusstatementonmanagementandpharmacologicaltreatmentofphenylketonuria AT vincenzoleuzzi italiannationalconsensusstatementonmanagementandpharmacologicaltreatmentofphenylketonuria
_version_	1718419019212521472

Italian national consensus statement on management and pharmacological treatment of phenylketonuria

Ejemplares similares