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July 26, 2024Molecular Genetics and Metabolism ReportsOpen Access

Avalglucosidase alfa in infantile-onset Pompe disease: A snapshot of real-world experience in Italy

Agata Fiumara Annamaria Sapuppo Serena Gasperini Viola Crescitelli Michele Sacchini Elena Procopio Vincenza Gragnaniello Alberto Burlina

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Abstract

Infantile-onset Pompe disease (IOPD) is due to mutations in the

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Cite This Study

Fiumara et al. (2024) studied this question.

synapsesocial.com/papers/68e5ee87b6db643587582e31 https://doi.org/10.1016/j.ymgmr.2024.101126

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Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Base editing rescues acid α-glucosidase function in infantile-onset Pompe disease patient-derived cells2024 · 7 citations
2Short-Term Intensive Avalglucosidase Alfa Regimen in Late-Diagnosed Infantile Pompe Disease: A Case ReportClinical Trial · 2026
3CRIM-negative infantile Pompe disease, long-term observation of the effect of enzyme replacement therapy: a clinical case2024 · 1 citations
4Real-world Experience of Switching Treatments from Alglucosidase Alfa to Avalglucosidase Alfa for Patients Enrolled in the Pompe Registry (P3-11.007)2024
5Latest Advancements in Treatment Options for Infantile-Onset Pompe Disease: A Comprehensive Narrative Review2025 · 2 citations

A Comprehensive Update on Late-Onset Pompe Disease2023
Clinical manifestations in Egyptian Pompe disease patients: Molecular variability and enzyme replacement therapy (ERT) outcomes2025
Clinical and molecular findings in 44 Turkish patients with infantile-onset Pompe disease2025
Relative versus absolute globotriaosylsphingosine changes and kidney outcomes in Fabry diseaseMolecular Genetics and Metabolism Reports · 2026
Velaglucerase alfa for Gaucher disease in Japan: Long-term post-marketing surveillance data from a unique population with high rates of neuronopathic subtypesMolecular Genetics and Metabolism Reports · 2026

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