Abstract
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.
Highlights
Pompe disease (OMIM #232300), known as glycogenosis type II, is a rare autosomal recessive lysosomal storage disorder caused by a deficiency of the lysosomal 4.0/).enzyme acid alpha-glucosidase (GAA)
The inclusion criteria for the study were: (a) established diagnosis of infantile Pompe disease (IPD) within the first three months of life confirmed by both GAA enzyme activity testing and genetic mutational analysis; (b) regular attendance to their scheduled clinical follow-up visits at the Metabolic Unit at Cruces University Hospital, Spain; and (c) willingness to participate in the study
2 at 7delay months after treatment initiation. This is important because treatment outcome is largely dependent on age initiation, and it is crucial to commence enzyme replacement therapy (ERT) before irreversible muscle damage has
Summary
It is characterized by the abnormal accumulation of lysosomal glycogen in skeletal, cardiac, bulbar and smooth muscle, leading to myopathy, respiratory weakness, physical disability and premature death [1]. Classic infantile Pompe disease (IPD) is the most severe form and presents with hypertrophic cardiomyopathy, which can be detected even prenatally [2], as well as profound muscle weakness in the first months of life, causing severely delayed motor development and compromised respiratory function. Enzyme replacement therapy (ERT) with recombinant human acid alpha-glucosidase (rhGAA), alglucosidase alfa, has been commercially available since 2006 and has led to improvements in survival rates and clinical outcomes [4,5]. It has been shown that IPD patients who start ERT
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