ERT safe during pregnancy in late-onset Pompe disease: Case series
All 5 children breastfed by mothers receiving therapy showed normal growth
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Women with late-onset Pompe disease (LOPD) can safely use enzyme replacement therapy (ERT) during pregnancy and breastfeeding, according to a case series.
Of the five reported pregnancies from three women, all were uneventful, and all five children breastfed by mothers receiving ERT exhibited normal growth and age-appropriate development.
Notably, the levels of GAA enzyme, the active ingredient in ERT, in the breast milk of a mother with three children were comparable to those in the breast milk of five healthy women.
“These findings reinforce the safety of continuing ERT during pregnancy and breastfeeding in Pompe disease,” researchers wrote. “As breastfeeding is the recommended nutrition for babies … it should be available and recommended also for children of mothers with Pompe disease.”
Case series details were reported in the study, “Enzyme replacement therapy during pregnancy and breastfeeding in late-onset Pompe disease,” published in the International Breastfeeding Journal.
Limited number of case studies report on use of ERT during pregnancy
Pompe disease is caused by a deficiency of the enzyme acid alpha-glucosidase (GAA), which leads to the toxic accumulation of glycogen, a complex carbohydrate, primarily affecting the heart and skeletal muscles.
ERT is the standard treatment for Pompe disease, providing patients with a lab-made version of the GAA enzyme to replace the missing or nonfunctional enzyme.
However, only a limited number of case studies report on the use of ERT during pregnancy. So far, no adverse effects in fetuses exposed to ERT have been reported. Data on the continuation of ERT during breastfeeding are even more limited.
A team led by scientists at the Medical University of Innsbruck in Austria has added to the literature by reporting on five pregnancies in three women with LOPD who were on ERT throughout pregnancy and breastfeeding.
In the first case, symptoms emerged at the age of 7, including muscle weakness during sports, urinary incontinence, and speech problems. The woman was diagnosed with Pompe at the age of 11 years and began ERT with Myozyme (alglucosidase alfa), sold as Lumizyme in the U.S., at the age of 12. No ERT-related side effects were reported.
At age 30, while still on ERT at the same dose, she had an uncomplicated pregnancy and delivered a healthy boy by planned Caesarean section. The child was breastfed exclusively during the first few months, showed above-average growth at 6 months, and, at about 2 years, demonstrated normal development.
One woman on ERT during pregnancy gave birth to 3 healthy children
In the second case, the woman was diagnosed with Pompe at age 22 through muscle biopsy and genetic confirmation. Fatigue was one of the symptoms she reported. Six months later, she began ERT with Myozyme, without side effects.
She had three healthy children: a boy and two girls. The pregnancies were mostly uneventful, and all children were exclusively breastfed for the first few months, without adverse effects on growth or age-appropriate development for up to 4 years. During the first trimester of her third pregnancy, she switched to Nexviadyme (avalglucosidase alfa), sold as Nexviazyme in the U.S.
ERT was continued at the same dosage throughout pregnancy and breastfeeding for all three children, with no reported maternal side effects. The levels of GAA enzyme in the mother’s breastmilk were comparable to those found in the breastmilk of five healthy women.
Data for the third Pompe patient were incomplete due to loss to follow-up. She was diagnosed with Pompe at around 25 years of age and began ERT about 3.5 years later. Around age 30, she delivered a child after an uneventful pregnancy and birth, with ERT paused before delivery and restarted five weeks postpartum. The child was exclusively breastfed for several months and grew and developed normally.
“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 scientists wrote.
