For women with late-onset Pompe disease (LOPD), family planning hasn’t historically come with clear assurances regarding the safety of essential enzyme replacement therapy (ERT). Now, a new case series offers significant reassurance: ERT appears safe to continue both during pregnancy and while breastfeeding, with no adverse effects observed in five pregnancies across three women. This finding is particularly impactful given the limited data previously available, and addresses a critical concern for women with this rare genetic disorder who wish to start or expand their families.
- ERT Safety Confirmed: Five pregnancies in women with LOPD, all while receiving ERT, resulted in healthy children with normal development.
- Breastfeeding is Viable: Children breastfed by mothers on ERT showed no adverse effects, and enzyme levels in breastmilk were comparable to healthy mothers.
- Expanding Guidance: This data strengthens the recommendation that breastfeeding should be available and encouraged for children of mothers with Pompe disease.
Understanding Pompe Disease and the Challenge of ERT During Pregnancy
Pompe disease, caused by a deficiency in the acid alpha-glucosidase (GAA) enzyme, leads to glycogen buildup that damages muscles, including those vital for heart function. ERT provides a lab-created version of GAA, effectively replacing the missing enzyme and managing the disease. However, the potential impact of ERT on fetal development and infant health has been a significant unknown. Prior to this study, data on ERT use during pregnancy was scarce, and information on breastfeeding while on ERT was even more limited, leaving clinicians and patients navigating uncharted territory.
The case series, published in the International Breastfeeding Journal, details the experiences of three women diagnosed with LOPD. One woman, diagnosed in childhood, had an uncomplicated pregnancy and delivered a healthy baby after continuing ERT throughout. Another woman successfully carried three healthy children to term while on ERT, with all infants exclusively breastfed for several months. Importantly, enzyme levels in her breastmilk were indistinguishable from those of healthy women, suggesting minimal transfer of the therapy to the infant. The third case, while incomplete due to follow-up limitations, also showed a positive outcome with ERT paused before delivery and resumed post-partum.
The Forward Look: Implications for Clinical Practice and Future Research
This study represents a crucial step forward in providing evidence-based guidance for women with LOPD. We can anticipate a shift in clinical practice, with healthcare providers now more confidently supporting the continuation of ERT during pregnancy and breastfeeding. This will alleviate anxiety for patients and empower them to make informed decisions about family planning.
However, this remains a case series – a collection of individual experiences – and larger, prospective studies are needed to confirm these findings. Researchers should prioritize enrolling more pregnant women with LOPD in clinical trials to gather more robust data on long-term outcomes for both mothers and children. Specifically, studies should focus on quantifying the amount of GAA enzyme transferred through breastmilk and assessing any potential, subtle effects on infant development over a longer period. Furthermore, investigating the impact of different ERT formulations (like the switch from Myozyme to Nexviadyme in one case) could refine treatment protocols. The current findings lay a solid foundation, but continued vigilance and research are essential to optimize care for this patient population.
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