Two decades of experience of the Fabry Outcome Survey provides further confirmation of the long-term effectiveness of agalsidase alfa enzyme replacement therapy

IF 1.8 4区医学 Q3 GENETICS & HEREDITY

Molecular Genetics and Metabolism Reports Pub Date : 2025-04-11 DOI:10.1016/j.ymgmr.2025.101215

Uma Ramaswami , Guillem Pintos-Morell , Christoph Kampmann , Kathleen Nicholls , Dau-Ming Niu , Ricardo Reisin , Michael L. West , Christina Anagnostopoulou , Jaco Botha , Dalia Jazukeviciene , Jörn Schenk , Derralynn A. Hughes , Roberto Giugliani

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Abstract

Background

Analyses of up to 20 years of data from the Fabry Outcome Survey (FOS) assessed the long-term effectiveness of agalsidase alfa enzyme replacement therapy.

Methods

The impact of agalsidase alfa treatment on renal, cardiac, morbidity, and mortality outcomes in FOS was compared with untreated external Fabry disease (FD) cohorts.

Results

A total of 2171 FOS patients (1014 men, 919 women, 163 boys, 75 girls) received agalsidase alfa (median [range] duration of treatment: 5.38 [0.0–20.8] years). Annual rates of decline in estimated glomerular filtration rate improved in treated patients versus untreated external cohorts regardless of sex or baseline urinary protein levels. Annual left ventricular mass index rates were stable in treated patients regardless of sex or baseline left ventricular hypertrophy status, and better than in untreated external cohorts. The mean age at which 50 % of patients had their first composite morbidity event was later in the agalsidase-alfa-treated population than in the untreated external cohort (51.7 vs 41 years [males]; 60.8 vs 53 years [females]). After 24 months of treatment, the probability of a composite morbidity event was ∼34 % in treated patients and ∼ 45 % in untreated patients. Treated patients were older at death than untreated patients (mean [range]: 61.7 [26.2–87.6] vs 50.3 [34.5–70.1] years). The mean age at which 50 % of male patients were still alive was higher in treated patients than in untreated external cohorts (75.5 vs 60.0 years).

Conclusions

Long-term treatment with agalsidase alfa may provide renal, cardiac, and overall survival protection in FD.

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法布里结果调查二十年的经验进一步证实了琼脂苷酶- α酶替代疗法的长期有效性

对Fabry结局调查（FOS）长达20年的数据进行分析，评估了agalsidase - alfa酶替代疗法的长期有效性。方法：与未治疗的外源性法布里病（FD）队列比较胆碱苷酶治疗对FOS患者肾脏、心脏、发病率和死亡率的影响。结果共有2171例FOS患者（男性1014例，女性919例，男孩163例，女孩75例）接受了agalsidase - α - fa治疗（中位[范围]:5.38[0.0-20.8]年）。无论性别或基线尿蛋白水平如何，与未经治疗的外部队列相比，接受治疗的患者估计肾小球滤过率的年下降率有所改善。在接受治疗的患者中，不论性别或基线左心室肥厚状态，年左心室质量指数率都是稳定的，并且优于未经治疗的外部队列。在agalsidase-alfa治疗人群中，50%的患者发生首次复合发病事件的平均年龄比未治疗的外部队列晚(51.7岁vs 41岁[男性]；60.8 vs 53岁[女性])。治疗24个月后，接受治疗的患者发生复合发病事件的概率为~ 34%，未接受治疗的患者为~ 45%。接受治疗的患者比未接受治疗的患者死亡时年龄大（平均[范围]:61.7[26.2-87.6]岁vs 50.3[34.5-70.1]岁）。在接受治疗的患者中，50%男性患者仍然存活的平均年龄高于未接受治疗的外部队列（75.5岁对60.0岁）。结论长期应用琼脂苷酶可对FD患者的肾脏、心脏和总体生存提供保护。

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.