First experience with enzyme replacement therapy during pregnancy and lactation in Pompe disease

Enzyme replacement therapy (ERT) with alglucosidase alfa was registered as a treatment for Pompe disease in 2006. It is as yet unknown whether ERT can be safely applied during pregnancy and lactation. A primiparous 40-year-old woman diagnosed with Pompe disease continued receiving ERT during pregnan...

Full description

Saved in:

Bibliographic Details
Published in:	Molecular genetics and metabolism 2011-12, Vol.104 (4), p.552-555
Main Authors:	de Vries, Juna M., Brugma, Jan-Dietert C., Özkan, Lale, Steegers, Eric A.P., Reuser, Arnold J.J., van Doorn, Pieter A., van der Ploeg, Ans T.
Format:	Article
Language:	eng
Subjects:	Acid α-glucosidase Adult alpha-Glucosidases - adverse effects alpha-Glucosidases - pharmacokinetics alpha-Glucosidases - therapeutic use Enzyme Replacement Therapy Female Glycogen Storage Disease Type II - drug therapy Humans Infant, Newborn Lactation Lysosomal storage disorder Male Milk, Human - enzymology Pompe disease Pregnancy Pregnancy Complications - drug therapy Treatment Outcome
Online Access:	Get full text
Tags:	Add Tag No Tags, Be the first to tag this record!

Description
Summary:	Enzyme replacement therapy (ERT) with alglucosidase alfa was registered as a treatment for Pompe disease in 2006. It is as yet unknown whether ERT can be safely applied during pregnancy and lactation. A primiparous 40-year-old woman diagnosed with Pompe disease continued receiving ERT during pregnancy and lactation. Before pregnancy, she had moderate limb-girdle weakness and used nocturnal ventilation. During pregnancy, her clinical condition remained fairly stable until the 25th gestational week. Thereafter she experienced more problems with mobility and respiration. Fetal growth was normal as monitored by regular ultrasound investigations. A healthy boy was born at a gestational age of 37weeks and 5days by elective Cesarean section. There were no maternal complications and the child developed normally. One year after delivery the mother's physical condition was similar as prior to her pregnancy. Pharmacokinetic studies following enzyme infusion showed that alglucosidase alfa was secreted into the breast milk. Activity levels in the milk (245nmol/ml.h) peaked at 2.5h after the end of the infusion; which was 2h later than in the plasma (80μmol/ml.h). Twenty-four hours after start of the infusion, the enzyme activity in the breast milk was back to the pre-infusion level. In this case report, the continuation of treatment with alglucosidase alfa during pregnancy and lactation has been safe for the mother and the child. ► A woman with Pompe disease continued receiving alglucosidase alfa during pregnancy. ► There were no maternal complications, and fetal growth was normal. ► A healthy boy was born by elective Cesarean section. ► Some alglucosidase alfa was detected in the breast milk shortly after infusion. ► The continuation of enzyme therapy turned out safe for mother and child.
ISSN:	1096-7192 1096-7206