Enzyme replacement therapy in Pompe disease shows promise for safe pregnancy outcomes.
Managing enzyme replacement therapy (ERT) during pregnancy in Pompe disease is complex and lacks clear guidelines. Among 14 pregnancies, 12 resulted in term births. ERT continued in 8 cases appeared safe with no adverse effects, and declines in clinical conditions often recovered post-pregnancy. This study provides preliminary evidence that continuing ERT during pregnancy may be safe but emphasizes variability in clinical outcomes and recovery. Small sample size limits generalizability. ERT continuation during pregnancy in Pompe disease shows preliminary safety, but careful monitoring is essential.
Authors: Theunissen MTM, Hayat Z, Bouhour F, van den Hout JMP, Noury JB, Lagrange E, Jouy A, Taouagh N, van Doorn PA, van der Ploeg AT, Laforêt P, van der Beek NAME
Citation: Theunissen MTM, Hayat Z, Bouhour F, et al. Managing Pompe Disease and Enzyme Replacement Therapy During Pregnancy: Challenges and Considerations. European journal of neurology. 2026;33(6):e70648. doi:10.1111/ene.70648
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