BOSTON, January 29, 2026 — A new study offers reassuring news for pregnant individuals with late-onset Pompe disease: enzyme replacement therapy (ERT) appears safe during pregnancy, according to research published recently.
ERT During Pregnancy: A Hopeful Sign for Families
Table of Contents
The findings provide critical data for women with Pompe disease who wish to start or expand their families.
- The study, involving six pregnancies, showed no adverse effects on fetal or maternal health related to ERT.
- ERT, specifically alglucosidase alfa, was continued throughout pregnancy without dose adjustments.
- Researchers emphasize the need for continued monitoring and larger studies to confirm these initial findings.
- Pompe disease is a rare, inherited disorder caused by a deficiency of the acid alpha-glucosidase (GAA) enzyme.
Enzyme replacement therapy, a cornerstone of Pompe disease management, has long raised concerns regarding its safety during pregnancy. Now, data suggests these worries may be largely unfounded, at least in cases of late-onset disease. This is a significant development for individuals planning families.
Understanding the Study Design
The research team retrospectively analyzed data from six pregnancies in five women with late-onset Pompe disease. All participants were receiving alglucosidase alfa (Myozyme/Lumizyme) prior to conception and continued treatment throughout their pregnancies without any changes to dosage. Researchers meticulously monitored both maternal and fetal outcomes.
Throughout the study period, researchers assessed various parameters, including GAA enzyme levels in newborns, developmental milestones, and any potential adverse events in both mothers and infants. The analysis revealed no evidence of harm related to continued ERT during pregnancy.
What Does This Mean for Patients?
Is enzyme replacement therapy safe to use during pregnancy for individuals with late-onset Pompe disease? The study suggests that continuing ERT with alglucosidase alfa during pregnancy appears to be safe, with no observed adverse effects on either the mother or the developing fetus.
While the sample size is small, the findings offer a crucial starting point for guiding clinical decision-making. Previously, many physicians recommended discontinuing or pausing ERT during pregnancy due to a lack of safety data. This new research challenges that approach, potentially allowing women with Pompe disease to continue essential treatment while pursuing parenthood.
The Importance of Continued Research
Researchers acknowledge the limitations of the study and emphasize the need for larger, prospective trials to validate these initial findings. Long-term follow-up of children exposed to ERT *in utero* will also be critical to assess any potential delayed effects. However, this study provides a much-needed dose of optimism for families affected by this rare genetic condition.
Looking Ahead
The team plans to continue collecting data and collaborating with other centers to build a more comprehensive understanding of ERT safety during pregnancy. They hope their work will empower individuals with Pompe disease to make informed decisions about family planning and treatment options.
Consider sharing your thoughts on this encouraging research in the comments below.
