JIM 2024; 1 (2): e541
DOI: 10.61012_20245_541

Selective screening vs. neonatal screening in infantile onset Pompe disease: a case series

Topic: Inherited Metabolic Diseases in Paediatric Age   Category:

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.

To cite this article

Selective screening vs. neonatal screening in infantile onset Pompe disease: a case series

JIM 2024; 1 (2): e541
DOI: 10.61012_20245_541

Publication History

Submission date: 06 Apr 2024

Revised on: 13 May 2024

Accepted on: 28 May 2024

Published online: 31 May 2024