ArticleEuropean journal of neurology2026
Managing Pompe Disease and Enzyme Replacement Therapy During Pregnancy: Challenges and Considerations.
Article in European journal of neurology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundThere are no clear guidelines for enzyme replacement therapy (ERT) use and obstetric management in pregnant patients with Pompe disease receiving ERT. This study aims to explore outcomes and challenges for these patients.
methodsWe included French and Dutch patients who became pregnant during ERT. Main outcomes were pregnancy (ERT management, obstetric delivery, neonatal outcomes) and clinical results (6-min walk test [6MWT], forced vital capacity [FVC] in supine and upright positions, infusion associated reactions [IARs]).
resultsData from 11 patients (median age at pregnancy onset 33 years) with 14 pregnancies were studied. One pregnancy ended in early miscarriage, and 12/13 live births reached term. Eight pregnancies had an induced birth or planned C-section, 6/8 due to maternal condition (e.g., increased dyspnea or preference medical team to ensure patient's safety). ERT was continued in eight pregnancies, with three patients receiving an adjusted dose based on their increased weight. ERT was interrupted early in five pregnancies because of trial participation or safety concerns. No IARs were reported during pregnancy or after restart of ERT. Of the patients with clinical data during pregnancy, a (mild) decline was observed in 6/7 pregnancies for 6MWT, 3/10 for upright FVC, and 6/9 for supine FVC. Most patients recovered from their decline during pregnancy within 2 years.
conclusionIn patients who continued ERT during pregnancy, it appeared to be safe, with no documented adverse effects for mother or child. While most patients experienced a mild worsening of clinical condition during pregnancy, the majority recovered well postpartum.
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