Abstract

OBJECTIVE: The study presents a comprehensive clinical history of patients with infantile-onset Pompe disease (IOPD) followed by the Center of Inborn Errors of Metabolism, Padua University Hospital, over the last 20 years.

CASE PRESENTATION: The article presents six cases of patients with IOPD diagnosed via selective screening or through a newborn screening (NBS) program and treated with enzyme replacement therapy (ERT), including next-generation ERT.

RESULTS: Three patients were diagnosed before 2015 based on clinical and biochemical features, further confirmed by enzymatic and genetic testing; the remaining three patients were diagnosed through NBS assay out of 257,236 neonates screened. All the patients were treated with ERT alglucosidase alfa at different initial dosages, up to 40 mg/kg weekly. Furthermore, one patient was treated with avalglucosidase alfa and one with the combination of cipaglucosidase alfa and miglustat. ERT treatment started at 4 months of age (range 1–6 months) for patients diagnosed via selective screening vs. 5–19 days for patients diagnosed via NBS. Two of the patients diagnosed before NBS died for respiratory failure at the age of 9 and 4.5 years, respectively; all the other patients are currently alive.

CONCLUSIONS: The study shows that the association between NBS and early treatment, plus the improvement in ERT dosages and the development of next-generation ERT approaches, can potentially improve the outcome of patients with IOPD.