Enzyme replacement therapy during pregnancy and breastfeeding in late-onset Pompe disease

Pompe disease is an autosomal recessively inherited lysosomal storage disorder, caused by enzyme deficiency of acid alpha-glucosidase (GAA). This deficiency leads to the accumulation of glycogen in lysosomes and subsequent muscle dysfunction, thus affecting heart and skeletal muscle. Since 2006, enzyme replacement therapy (ERT) is available. The use of ERT during pregnancy and lactation remains a topic of concern due to limited data on the safety of ERT during these periods. Despite this, some previous case reports suggest that ERT is safe during pregnancy and lactation.

In this case series, we collected the data on five pregnancies in three women with late-onset Pompe disease who were on ERT and continued it during pregnancy and lactation. In two of the children, during the lactation period activity levels of alglucosidase alfa were measured in breastmilk on dried blood spots.

These case reports add to the literature experience by presenting the information on five so far not reported pregnancies in three women with late-onset Pompe disease, where ERT was continued during pregnancy and lactation. The results showed that acid alpha-glucosidase activity in milk from a woman with Pompe disease in two different breastfeeding periods was in the same range as acid alpha glucosidase activity in milk from five healthy women. As for the outcome in the five children, all have age-appropriated growth and development, confirming that ERT in this cohort was feasible and safe. These findings reinforce the safety of continuing ERT during pregnancy and breastfeeding in Pompe disease. Breastfeeding not only is the age adequate nutrition but also supports the well-being and development of the child as well as benefits maternal health. The value of breastfeeding being the recommended form of nutrition for infants cannot be emphasized enough. Thus, breastfeeding has to be especially supported in situations where there is a chronic disease/condition or medication. Further reports and appropriate guidelines are needed to soundly provide good advice to women with Pompe disease (or Morbus Pompe) during pregnancy and breastfeeding.