Olipudase alfa treatment for pediatric acid sphingomyelinase deficiency in Egypt: A prospective, observational cohort study with an interventional subgroup

IF 1.8 4区医学 Q3 GENETICS & HEREDITY

Molecular Genetics and Metabolism Reports Pub Date : 2026-03-01 Epub Date: 2026-02-11 DOI:10.1016/j.ymgmr.2026.101293

Nehal Abdelaziz Arafa , Aml Mahfouz , Shimaa Anwar , Iman Marzouk

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引用次数: 0

Abstract

Objectives

To present key features of pediatric acid sphingomyelinase deficiency (ASMD) and assess the clinical and safety outcomes of enzyme replacement therapy with olipudase alfa.

Study design

A prospective, observational cohort study of pediatric patients with ASMD that included an interventional subgroup treated with olipudase alfa. Patients presenting to the Alexandria University Children's Hospital in Egypt from June 2022 to May 2023 underwent clinical examination and genetic testing. Clinical and safety outcomes were assessed in patients who received biweekly infusions of olipudase alfa for 12 months.

Results

Fifteen pediatric patients with ASMD were included (10 were classified as type A or A/B and 5 were classified as type B). Patients with ASMD type A or A/B presented earlier and more severely, with a higher rate of mortality than patients with type B. Qualitative improvements in developmental and neurocognitive outcomes, clinical presentation, and laboratory parameters were observed among the patients with ASMD type A/B or type B treated with olipudase alfa (n = 6), with only mild safety events recorded. Treated patients with type B (n = 4) demonstrated significantly improved weight (p = 0.031, η² = 0.757) and height/length Z-scores (p = 0.009, η² = 0.707), and liver size (p = 0.025, η² = 0.839) compared with baseline.

Conclusions

This case series contributes to the clinical and biochemical understanding of ASMD and may help reduce diagnostic delays and improve clinical management. Olipudase alfa was generally well tolerated, and promising clinical improvements were observed.

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脂溶酶α治疗儿童酸性鞘磷脂酶缺乏症在埃及：一项前瞻性，观察队列研究与介入亚组

目的探讨儿童酸性鞘磷脂酶缺乏症（ASMD）的主要特征，评价脂酶替代治疗的临床和安全性。研究设计：一项针对ASMD患儿的前瞻性、观察性队列研究，其中包括用脂酶治疗的介入亚组。2022年6月至2023年5月，在埃及亚历山大大学儿童医院就诊的患者接受了临床检查和基因检测。对每两周输注α脂酶12个月的患者的临床和安全性结果进行了评估。结果共纳入15例ASMD患儿，其中A型或A/B型10例，B型5例。与B型患者相比，A型或A/B型ASMD患者出现时间更早、更严重，死亡率更高。在接受α脂酶治疗的A/B型或B型ASMD患者中，观察到发育和神经认知结局、临床表现和实验室参数的定性改善（n = 6），仅记录了轻微的安全事件。与基线相比，B型患者（n = 4）的体重（p = 0.031, η2 = 0.757）、身高/长度z评分（p = 0.009, η2 = 0.707）和肝脏大小（p = 0.025, η2 = 0.839）均有显著改善。结论本病例系列有助于对ASMD的临床和生化认识，可能有助于减少诊断延误和改善临床管理。脂溶酶总的耐受性良好，并且观察到有希望的临床改善。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Molecular Genetics and Metabolism Reports Biochemistry, Genetics and Molecular Biology-Endocrinology

CiteScore

4.00

自引率

5.30%

发文量

105

审稿时长

33 days

期刊介绍： Molecular Genetics and Metabolism Reports is an open access journal that publishes molecular and metabolic reports describing investigations that use the tools of biochemistry and molecular biology for studies of normal and diseased states. In addition to original research articles, sequence reports, brief communication reports and letters to the editor are considered.