Evidence map›Paper›PMID 41692468›Full record

ArticleMolecular genetics & genomic medicine2026

Pathogenic Variants and Olipudase Alfa Treatment of Patients With Acid Sphingomyelinase Deficiency in Taiwan.

Hsu-Heng Lin, Hui-An Chen, Shyh-Jer Lin, Rai-Hseng Hsu, Ni-Chung Lee, Wuh-Liang Hwu, Yen-Hsuan Ni, Yen-Yin Chou, Pao-Chin Chiu, Steven Shinn-Forng Peng and 1 more

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Article in Molecular genetics & genomic medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

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2citing papers in PubMed
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3 · Its place in the literature

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2 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

11 authors.

Hsu-Heng LinDepartment of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
Hui-An ChenDepartment of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
Shyh-Jer LinDivision of Hematology/Oncology, Veterans General Hospital-Kaohsiung, Kaohsiung, Taiwan.
Rai-Hseng HsuDepartment of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
Ni-Chung LeeDepartment of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
Wuh-Liang HwuDepartment of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
Yen-Hsuan NiDepartment of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
Yen-Yin ChouDepartment of Pediatrics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
Pao-Chin ChiuDepartment of Pediatrics, Kaohsiung Medical University Gangshan Hospital, Kaohsiung, Taiwan.
Steven Shinn-Forng PengDepartment of Radiology, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.
Yin-Hsiu ChienDepartment of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundAcid sphingomyelinase deficiency (ASMD) is a rare lysosomal disorder with diverse clinical presentations and often delayed diagnosis. This study investigates the clinical features, genetic variants, and treatment outcomes in Taiwanese patients.

methodsWe retrospectively reviewed nine ASMD cases in Taiwan, including genetic data and responses to olipudase alfa. Newborn screening data using the NeoLSD MS/MS kit for dried blood spot enzyme activity, followed by lyso-sphingomyelin and molecular testing, were also analysed.

resultsThe SMPD1 c.1497_1498inv variant was found in 62.5% of alleles among chronic neurovisceral ASMD cases, while c.995C > G appeared in 37.5% of chronic visceral ASMD cases and was also frequent in partial ASMD from newborn screening. Four patients received olipudase alfa; Patient 1, treated for 3 years starting at age 41, showed improved pulmonary function despite persistent thrombocytopenia and splenomegaly. Patients 2, 6, and 7, treated from early childhood, exhibited marked improvements in hepatosplenomegaly, interstitial lung disease, and growth within 1 year of therapy.

conclusionThis study highlights distinct genotype-phenotype correlations in ASMD and supports the clinical benefits of olipudase alfa. Increased awareness and early diagnosis, potentially through newborn screening, are essential for optimizing outcomes in ASMD.

Indexed as

Enzyme Replacement TherapySphingomyelin PhosphodiesteraseAdultChildChild, PreschoolFemaleHumansInfantInfant, NewbornMaleRecombinant ProteinsRetrospective StudiesTaiwanolipudase alfaRecombinant ProteinsSMPD1 protein, humanSphingomyelin PhosphodiesteraseASMDNBSNiemann–pick disease type A/BOlipudase alfaSMPD1

Identifiers

PMID41692468
PMCPMC12906976

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