[Pompe disease treated with enzyme replacement therapy in pregnancy]

Area of Science:

• Biochemistry
• Genetics
• Neurology

Background:

• Pompe disease is a rare, recessive lysosomal storage disorder causing progressive muscular dystrophy due to alpha-glucosidase deficiency.
• Glycogen accumulation in cells leads to infantile hypotonia and cardio-respiratory failure, or late-onset muscle weakness and respiratory dysfunction.
• Enzyme replacement therapy (ERT) has been available since 2006, improving survival and symptoms for infantile and late-onset Pompe disease.

Observation:

• ERT is generally safe and well-tolerated in Pompe disease patients.
• Limited clinical data exists regarding the safety and efficacy of ERT during pregnancy and the postpartum period.
• This study aims to review existing literature and share clinical experience on ERT use in pregnant Pompe disease patients.

Findings:

• ERT has demonstrated significant benefits in managing Pompe disease symptoms and improving patient outcomes.
• The review focuses on the safety profile of ERT in pregnant individuals and its impact on both mother and fetus.
• Postpartum considerations for ERT continuation or modification are also explored.

Implications:

• This research provides essential insights into managing Pompe disease in pregnant women, addressing a critical knowledge gap.
• Findings will guide clinical decision-making for healthcare providers treating Pompe disease during pregnancy.
• Improved understanding of ERT safety in pregnancy can enhance maternal and fetal outcomes for this rare genetic condition.