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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...
Autores principales: | , , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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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. |
format | Online Article Text |
id | pubmed-8620435 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
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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