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Importance of Timely Treatment Initiation in Infantile-Onset Pompe Disease, a Single-Centre Experience

Classic infantile Pompe disease (IPD) is a rare lysosomal storage disorder characterized by severe hypertrophic cardiomyopathy and profound muscle weakness. Without treatment, death occurs within the first 2 years of life. Although enzyme replacement therapy (ERT) with alglucosidase alfa has improve...

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Autores principales: de las Heras, Javier, Cano, Ainara, Vinuesa, Ana, Montes, Marta, Unceta Suarez, María, Arza, Arantza, Jiménez, Saioa, Vera, Elena, del Hoyo, Marta, Gendive, Miriam, Aguirre, Lizar, Muñoz, Gisela, Fernández, Javier, Ruiz-Espinoza, Cynthia, Fernández, María Ángeles, Galdeano, José Miguel, Rodríguez, Irene, Román, Lourdes, Rodríguez-Serna, Amaya, Loureiro, Begoña, Astigarraga, Itziar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8620435/
https://www.ncbi.nlm.nih.gov/pubmed/34828739
http://dx.doi.org/10.3390/children8111026
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author de las Heras, Javier
Cano, Ainara
Vinuesa, Ana
Montes, Marta
Unceta Suarez, María
Arza, Arantza
Jiménez, Saioa
Vera, Elena
del Hoyo, Marta
Gendive, Miriam
Aguirre, Lizar
Muñoz, Gisela
Fernández, Javier
Ruiz-Espinoza, Cynthia
Fernández, María Ángeles
Galdeano, José Miguel
Rodríguez, Irene
Román, Lourdes
Rodríguez-Serna, Amaya
Loureiro, Begoña
Astigarraga, Itziar
author_facet de las Heras, Javier
Cano, Ainara
Vinuesa, Ana
Montes, Marta
Unceta Suarez, María
Arza, Arantza
Jiménez, Saioa
Vera, Elena
del Hoyo, Marta
Gendive, Miriam
Aguirre, Lizar
Muñoz, Gisela
Fernández, Javier
Ruiz-Espinoza, Cynthia
Fernández, María Ángeles
Galdeano, José Miguel
Rodríguez, Irene
Román, Lourdes
Rodríguez-Serna, Amaya
Loureiro, Begoña
Astigarraga, Itziar
author_sort de las Heras, Javier
collection PubMed
description Classic infantile Pompe disease (IPD) is a rare lysosomal storage disorder characterized by severe hypertrophic cardiomyopathy and profound muscle weakness. Without treatment, death occurs within the first 2 years of life. Although enzyme replacement therapy (ERT) with alglucosidase alfa has improved survival, treatment outcome is not good in many cases and is largely dependent on age at initiation. The objective of the study was (a) to analyse the different stages in the diagnosis and specific treatment initiation procedure in IPD patients, and (b) to compare clinical and biochemical outcomes depending on age at ERT initiation (<1 month of age vs. <3 months of age). Here, we show satisfactory clinical and biochemical outcomes in two IPD patients after early treatment initiation before 3 months of life with immunomodulatory therapy in the ERT-naïve setting, with a high ERT dose from the beginning. Despite the overall good evolution, the patient who initiated treatment <1 month of life presented even better outcomes than the patient who started treatment <3 months of life, with an earlier normalization of hypertrophic cardiomyopathy, along with CK normalization, highlighting the importance of early treatment initiation in this progressive disease before irreversible muscle damage has occurred.
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spelling pubmed-86204352021-11-27 Importance of Timely Treatment Initiation in Infantile-Onset Pompe Disease, a Single-Centre Experience de las Heras, Javier Cano, Ainara Vinuesa, Ana Montes, Marta Unceta Suarez, María Arza, Arantza Jiménez, Saioa Vera, Elena del Hoyo, Marta Gendive, Miriam Aguirre, Lizar Muñoz, Gisela Fernández, Javier Ruiz-Espinoza, Cynthia Fernández, María Ángeles Galdeano, José Miguel Rodríguez, Irene Román, Lourdes Rodríguez-Serna, Amaya Loureiro, Begoña Astigarraga, Itziar Children (Basel) Article Classic infantile Pompe disease (IPD) is a rare lysosomal storage disorder characterized by severe hypertrophic cardiomyopathy and profound muscle weakness. Without treatment, death occurs within the first 2 years of life. Although enzyme replacement therapy (ERT) with alglucosidase alfa has improved survival, treatment outcome is not good in many cases and is largely dependent on age at initiation. The objective of the study was (a) to analyse the different stages in the diagnosis and specific treatment initiation procedure in IPD patients, and (b) to compare clinical and biochemical outcomes depending on age at ERT initiation (<1 month of age vs. <3 months of age). Here, we show satisfactory clinical and biochemical outcomes in two IPD patients after early treatment initiation before 3 months of life with immunomodulatory therapy in the ERT-naïve setting, with a high ERT dose from the beginning. Despite the overall good evolution, the patient who initiated treatment <1 month of life presented even better outcomes than the patient who started treatment <3 months of life, with an earlier normalization of hypertrophic cardiomyopathy, along with CK normalization, highlighting the importance of early treatment initiation in this progressive disease before irreversible muscle damage has occurred. MDPI 2021-11-09 /pmc/articles/PMC8620435/ /pubmed/34828739 http://dx.doi.org/10.3390/children8111026 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
de las Heras, Javier
Cano, Ainara
Vinuesa, Ana
Montes, Marta
Unceta Suarez, María
Arza, Arantza
Jiménez, Saioa
Vera, Elena
del Hoyo, Marta
Gendive, Miriam
Aguirre, Lizar
Muñoz, Gisela
Fernández, Javier
Ruiz-Espinoza, Cynthia
Fernández, María Ángeles
Galdeano, José Miguel
Rodríguez, Irene
Román, Lourdes
Rodríguez-Serna, Amaya
Loureiro, Begoña
Astigarraga, Itziar
Importance of Timely Treatment Initiation in Infantile-Onset Pompe Disease, a Single-Centre Experience
title Importance of Timely Treatment Initiation in Infantile-Onset Pompe Disease, a Single-Centre Experience
title_full Importance of Timely Treatment Initiation in Infantile-Onset Pompe Disease, a Single-Centre Experience
title_fullStr Importance of Timely Treatment Initiation in Infantile-Onset Pompe Disease, a Single-Centre Experience
title_full_unstemmed Importance of Timely Treatment Initiation in Infantile-Onset Pompe Disease, a Single-Centre Experience
title_short Importance of Timely Treatment Initiation in Infantile-Onset Pompe Disease, a Single-Centre Experience
title_sort importance of timely treatment initiation in infantile-onset pompe disease, a single-centre experience
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8620435/
https://www.ncbi.nlm.nih.gov/pubmed/34828739
http://dx.doi.org/10.3390/children8111026
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