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Genotype-phenotype correlation and CRIM status in Vietnamese children with Pompe disease: a single-center experience

Thanh Huong Thi Nguyen1, Ngoc Trang Thi Nguyen1, Hong Phuong Thi Chu1

  • 1Neonatology 2 - Metabolism - Genetics Department, Children's Hospital 1, Ho Chi Minh City, Vietnam.

Future Science OA
|September 15, 2025
PubMed

Insights

Pompe disease (PD) in Vietnamese children shows varied outcomes based on genetic variants and CRIM status. Comprehensive genotyping and CRIM assessment are crucial for predicting disease progression and guiding personalized treatment strategies.

Area of Science:

  • Genetics
  • Biochemistry
  • Pediatrics

Background:

  • Pompe disease (PD) is a rare genetic disorder caused by deficient lysosomal acid α-glucosidase activity due to pathogenic variants in the *GAA* gene.
  • PD presents with diverse phenotypes, including infantile-onset (IOPD) and late-onset (LOPD), necessitating understanding of genotype-phenotype correlations for effective management.

Purpose of the Study:

  • To investigate genotype-phenotype correlations, Cross-Reactive Immunologic Material (CRIM) status, and survival outcomes in Vietnamese pediatric patients with Pompe disease.
  • To identify common and novel *GAA* gene variants in this population.

Main Methods:

  • A retrospective, single-center study analyzing clinical, biochemical, and genetic data from 26 Vietnamese pediatric PD patients.
  • Systematic collection and analysis of genotype, CRIM status, and survival data.

Main Results:

  • The study included 23 IOPD and 3 LOPD cases, with 87.0% of IOPD and 33.3% of LOPD patients being CRIM-positive.
  • Common variants included c.1843G>A and c.1933G>C; two novel variants (c.2016del, c.1723T>C) were identified.
  • IOPD patients universally presented with hypertrophic cardiomyopathy and hypotonia. Despite enzyme replacement therapy (ERT), the mortality rate in the infantile group was 60.8%.

Conclusions:

  • Comprehensive *GAA* genotyping and CRIM status determination are vital for predicting PD prognosis and guiding therapeutic decisions.
  • The findings highlight the need for population-specific variant databases to support newborn screening and precision medicine initiatives in Southeast Asia.
Abstract

Keywords:
GAA mutationsPompe diseasecross-reactive immunologic material (CRIM)enzyme replacement therapy (ERT)genotype–phenotype correlation

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