Staying on Pompe therapy during pregnancy, breastfeeding is safe: Study
No adverse effects seen for mother or child with use of ERT
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Enzyme replacement therapy for Pompe disease — a standard treatment for the rare genetic condition — can be safely continued during pregnancy and breastfeeding, a new study indicates.
In the small European study, the use of any of several approved treatments did not result in adverse effects in the pregnant women or their children, the researchers reported.
The findings suggest that women with Pompe may experience worsened lung function and exercise capacity while pregnant, but they almost always recover to prepregnancy status within a year or two after giving birth.
“In patients who continued ERT [enzyme replacement therapy] during pregnancy, it appeared to be safe, with no documented adverse effects for mother or child,” the researchers wrote, adding that, “while most patients experienced a mild worsening of clinical condition during pregnancy, the majority recovered well postpartum,” or in the period following childbirth.
The study, “Managing Pompe Disease and Enzyme Replacement Therapy During Pregnancy: Challenges and Considerations,” was published in the European Journal of Neurology.
Gene mutations in Pompe lead to a lack of functional acid alpha-glucosidase (GAA), an enzyme needed to break down a complex sugar molecule called glycogen in the body. Lacking functional GAA, glycogen builds up to toxic levels in cells, especially muscle cells, to drive damage.
Little data on ERT use in women during pregnancy, breastfeeding
Enzyme replacement therapy, or ERT, is a standard-of-care treatment for Pompe that works by delivering a working version of the GAA enzyme into the body. It’s been proven that ERT can help slow Pompe progression. However, there is not much data on whether ERT can be safely used in Pompe patients who are pregnant or nursing their babies.
Here, scientists in the Netherlands and France reported on outcomes from 14 pregnancies in 11 women with Pompe “to explore outcomes and challenges for these patients.”
Most of the women were in their 30s and had been on ERT for several years when they conceived. The majority continued to use ERT while pregnant, though a few elected to stop treatment during their pregnancies. The specific ERT products used included Myozyme (alglucosidase alfa, marketed as Lumizyme in the U.S.) and Nexviadyme (avalglucosidase alfa, sold as Nexviazyme in the U.S.), both marketed by Sanofi.
Over the course of pregnancy, the majority of women with available data experienced declines in measures of exercise capacity and lung function.
Still, “while most patients experienced a mild worsening of clinical condition during pregnancy, all but one patient returned to pre-pregnancy clinical levels within 2 years postpartum,” the researchers wrote.
The team agreed that such pregnancy-related changes may be driven by Pompe disease progression, but noted that pregnancy itself can also lead to impaired physical function among expectant mothers in the general population.
Overall, the findings underscore the importance of careful monitoring for Pompe patients who are pregnant, the researchers said.
Researchers recommended ‘proactive approach’ for pregnant women
One of the pregnancies ended in an early miscarriage, but the other 13 all resulted in live births. The researchers noted that these rates of miscarriage and live births are similar to what’s seen in the general population of some European countries.
In about half of the cases, birth involved medical intervention, with either a planned cesarean section or medically-induced labor with assistive delivery. Medical interventions for births were mainly planned due to the mothers’ condition, such as having difficulty breathing, the team noted.
In light of these findings, the researchers said that “discussing the possibility of an assisted delivery early in pregnancy is crucial to manage expectations and prevent maternal exhaustion.”
“We recommend a proactive approach to pregnancy planning in patients with Pompe disease, including multidisciplinary decision-making to evaluate the need for additional support during pregnancy and to determine whether delivery should be medically planned,” the scientists wrote.
As no adverse effects were observed in our study in mothers or infants when ERT was continued and dose adjustments did not prevent clinical decline, continuation of ERT on the same dose with [Myozyme] or [Nexviadyme] during pregnancy should be considered.
Most of the babies had no health issues at birth. Three required intensive care for reasons such as fluid in the lungs or preterm birth, but all were ultimately able to go home healthy, and none of these issues was judged to be related to the use of ERT. The researchers noted that some patients altered their ERT dose during pregnancy, but this had no clear effect on outcomes for mother or child.
“As no adverse effects were observed in our study in mothers or infants when ERT was continued and dose adjustments did not prevent clinical decline, continuation of ERT on the same dose with [Myozyme] or [Nexviadyme] during pregnancy should be considered,” the scientists wrote.
After birth, four new mothers on Myozyme elected to breastfeed their babies. No notable health problems were reported in these infants. Based on this finding, the researchers said that “breastfeeding while receiving [Myozyme] is considered safe.” The three women on Nexviadyme did not breastfeed or did so for a short period while off this ERT, the team noted.
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