美国加州大学旧金山分校Tippi C. MacKenzie团队研究了子宫内酶替代法治疗婴儿期发病庞贝氏病的疗效。相关论文于2022年11月9日发表在《新英格兰医学杂志》上。

早发性溶酶体贮积病患者是产前治疗的理想人选，因为器官损伤始于子宫。

研究组报道了宫内酶替代疗法（ERT）对CRIM（交叉反应性免疫物质）阴性的婴儿期发病庞贝氏病胎儿的安全性和有效性结局。这名婴儿家族史中两名已故兄弟姐妹均患有庞贝氏病，且合并心肌病。在接受子宫内ERT和标准产后治疗后，目前的患儿出生后心脏和年龄相适应的运动功能正常，符合发育里程碑，生物标志物水平正常，在13个月大时喂养和生长良好。

附：英文原文

Title: In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe’s Disease

Author: Jennifer L. Cohen, M.D.,, Pranesh Chakraborty, M.D.,, Karen Fung-Kee-Fung, M.D.,, Marisa E. Schwab, M.D.,, Deeksha Bali, Ph.D.,, Sarah P. Young, Ph.D.,, Michael H. Gelb, Ph.D.,, Hamid Khaledi, Ph.D.,, Alicia DiBattista, Ph.D.,, Stacey Smallshaw, R.N.,, Felipe Moretti, M.D.,, Derek Wong, M.D.,, Catherine Lacroix, P.T.,, Dina El Demellawy, M.D., Ph.D.,, Kyle C. Strickland, M.D., Ph.D.,, Jane Lougheed, M.D.,, Anita Moon-Grady, M.D.,, Billie R. Lianoglou, M.S.,, Paul Harmatz, M.D.,, Priya S. Kishnani, M.D.,, and Tippi C. MacKenzie, M.D.

Issue&Volume: 2022-11-09

Abstract:

Patients with early-onset lysosomal storage diseases are ideal candidates for prenatal therapy because organ damage starts in utero. We report the safety and efficacy results of in utero enzyme-replacement therapy (ERT) in a fetus with CRIM (cross-reactive immunologic material)–negative infantile-onset Pompe’s disease. The family history was positive for infantile-onset Pompe’s disease with cardiomyopathy in two previously affected deceased siblings. After receiving in utero ERT and standard postnatal therapy, the current patient had normal cardiac and age-appropriate motor function postnatally, was meeting developmental milestones, had normal biomarker levels, and was feeding and growing well at 13 months of age.

DOI: 10.1056/NEJMoa2200587

Source: https://www.nejm.org/doi/full/10.1056/NEJMoa2200587