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Managing Pompe Disease and Enzyme Replacement Therapy During Pregnancy: Challenges and Considerations.

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Title: Managing Pompe Disease and Enzyme Replacement Therapy During Pregnancy: Challenges and Considerations.
Authors: Theunissen, Maudy T. M. (AUTHOR), Hayat, Zohra (AUTHOR), Bouhour, Françoise (AUTHOR), van den Hout, Johanna M. P. (AUTHOR), Noury, Jean‐Baptiste (AUTHOR), Lagrange, Emmeline (AUTHOR), Jouy, Aurélie (AUTHOR), Taouagh, Nadjib (AUTHOR), van Doorn, Pieter A. (AUTHOR), van der Ploeg, Ans T. (AUTHOR), Laforêt, Pascal (AUTHOR), van der Beek, Nadine A. M. E. (AUTHOR)
Source: European Journal of Neurology. Jun2026, Vol. 33 Issue 6, p1-17. 17p.
Subjects: Enzyme replacement therapy, Pregnancy, Exercise tests, Infusion therapy, Glycogen storage disease type II, Treatment effectiveness, Vital capacity (Respiration), Obstetrics
Abstract: Background: There 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. Methods: We 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]). Results: Data 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. Conclusion: In 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. [ABSTRACT FROM AUTHOR]
Copyright of European Journal of Neurology is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
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  Data: Managing Pompe Disease and Enzyme Replacement Therapy During Pregnancy: Challenges and Considerations.
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  Data: <searchLink fieldCode="AR" term="%22Theunissen%2C+Maudy+T%2E+M%2E%22">Theunissen, Maudy T. M.</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Hayat%2C+Zohra%22">Hayat, Zohra</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Bouhour%2C+Françoise%22">Bouhour, Françoise</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22van+den+Hout%2C+Johanna+M%2E+P%2E%22">van den Hout, Johanna M. P.</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Noury%2C+Jean‐Baptiste%22">Noury, Jean‐Baptiste</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Lagrange%2C+Emmeline%22">Lagrange, Emmeline</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Jouy%2C+Aurélie%22">Jouy, Aurélie</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Taouagh%2C+Nadjib%22">Taouagh, Nadjib</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22van+Doorn%2C+Pieter+A%2E%22">van Doorn, Pieter A.</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22van+der+Ploeg%2C+Ans+T%2E%22">van der Ploeg, Ans T.</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Laforêt%2C+Pascal%22">Laforêt, Pascal</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22van+der+Beek%2C+Nadine+A%2E+M%2E+E%2E%22">van der Beek, Nadine A. M. E.</searchLink> (AUTHOR)
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  Data: <searchLink fieldCode="JN" term="%22European+Journal+of+Neurology%22">European Journal of Neurology</searchLink>. Jun2026, Vol. 33 Issue 6, p1-17. 17p.
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  Data: <searchLink fieldCode="DE" term="%22Enzyme+replacement+therapy%22">Enzyme replacement therapy</searchLink><br /><searchLink fieldCode="DE" term="%22Pregnancy%22">Pregnancy</searchLink><br /><searchLink fieldCode="DE" term="%22Exercise+tests%22">Exercise tests</searchLink><br /><searchLink fieldCode="DE" term="%22Infusion+therapy%22">Infusion therapy</searchLink><br /><searchLink fieldCode="DE" term="%22Glycogen+storage+disease+type+II%22">Glycogen storage disease type II</searchLink><br /><searchLink fieldCode="DE" term="%22Treatment+effectiveness%22">Treatment effectiveness</searchLink><br /><searchLink fieldCode="DE" term="%22Vital+capacity+%28Respiration%29%22">Vital capacity (Respiration)</searchLink><br /><searchLink fieldCode="DE" term="%22Obstetrics%22">Obstetrics</searchLink>
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  Label: Abstract
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  Data: Background: There 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. Methods: We 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]). Results: Data 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. Conclusion: In 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. [ABSTRACT FROM AUTHOR]
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  Data: <i>Copyright of European Journal of Neurology is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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        Value: 10.1111/ene.70648
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      – Code: eng
        Text: English
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        PageCount: 17
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    Subjects:
      – SubjectFull: Enzyme replacement therapy
        Type: general
      – SubjectFull: Pregnancy
        Type: general
      – SubjectFull: Exercise tests
        Type: general
      – SubjectFull: Infusion therapy
        Type: general
      – SubjectFull: Glycogen storage disease type II
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      – SubjectFull: Treatment effectiveness
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      – SubjectFull: Vital capacity (Respiration)
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      – SubjectFull: Obstetrics
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              Text: Jun2026
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