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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MDPI AG
2021
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oai:doaj.org-article:05147c9eb1a64757918d5361ca6ff5e42021-11-25T17:14:39ZImportance of Timely Treatment Initiation in Infantile-Onset Pompe Disease, a Single-Centre Experience10.3390/children81110262227-9067https://doaj.org/article/05147c9eb1a64757918d5361ca6ff5e42021-11-01T00:00:00Zhttps://www.mdpi.com/2227-9067/8/11/1026https://doaj.org/toc/2227-9067Classic 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.Javier de las HerasAinara CanoAna VinuesaMarta MontesMaría Unceta SuarezArantza ArzaSaioa JiménezElena VeraMarta del HoyoMiriam GendiveLizar AguirreGisela MuñozJavier FernándezCynthia Ruiz-EspinozaMaría Ángeles FernándezJosé Miguel GaldeanoIrene RodríguezLourdes RománAmaya Rodríguez-SernaBegoña LoureiroItziar AstigarragaMDPI AGarticlePompe diseaseinfantile Pompe diseaseimmune tolerance inductionimmunomodulationearly diagnosisenzyme replacement therapyPediatricsRJ1-570ENChildren, Vol 8, Iss 1026, p 1026 (2021) |
| institution |
DOAJ |
| collection |
DOAJ |
| language |
EN |
| topic |
Pompe disease infantile Pompe disease immune tolerance induction immunomodulation early diagnosis enzyme replacement therapy Pediatrics RJ1-570 |
| spellingShingle |
Pompe disease infantile Pompe disease immune tolerance induction immunomodulation early diagnosis enzyme replacement therapy Pediatrics RJ1-570 Javier de las Heras Ainara Cano Ana Vinuesa Marta Montes María Unceta Suarez Arantza Arza Saioa Jiménez Elena Vera Marta del Hoyo Miriam Gendive Lizar Aguirre Gisela Muñoz Javier Fernández Cynthia Ruiz-Espinoza María Ángeles Fernández José Miguel Galdeano Irene Rodríguez Lourdes Román Amaya Rodríguez-Serna Begoña Loureiro Itziar Astigarraga Importance of Timely Treatment Initiation in Infantile-Onset Pompe Disease, a Single-Centre Experience |
| 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 |
article |
| author |
Javier de las Heras Ainara Cano Ana Vinuesa Marta Montes María Unceta Suarez Arantza Arza Saioa Jiménez Elena Vera Marta del Hoyo Miriam Gendive Lizar Aguirre Gisela Muñoz Javier Fernández Cynthia Ruiz-Espinoza María Ángeles Fernández José Miguel Galdeano Irene Rodríguez Lourdes Román Amaya Rodríguez-Serna Begoña Loureiro Itziar Astigarraga |
| author_facet |
Javier de las Heras Ainara Cano Ana Vinuesa Marta Montes María Unceta Suarez Arantza Arza Saioa Jiménez Elena Vera Marta del Hoyo Miriam Gendive Lizar Aguirre Gisela Muñoz Javier Fernández Cynthia Ruiz-Espinoza María Ángeles Fernández José Miguel Galdeano Irene Rodríguez Lourdes Román Amaya Rodríguez-Serna Begoña Loureiro Itziar Astigarraga |
| author_sort |
Javier de las Heras |
| title |
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_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_sort |
importance of timely treatment initiation in infantile-onset pompe disease, a single-centre experience |
| publisher |
MDPI AG |
| publishDate |
2021 |
| url |
https://doaj.org/article/05147c9eb1a64757918d5361ca6ff5e4 |
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