Pregnancy and associated events in women receiving enzyme replacement therapy for late‐onset glycogen storage disease type II (Pompe disease)

Rohman, Philippa J.; Scott, Elaine; Richfield, L; Ramaswami, Uma; Hughes, D.A.

doi:10.1111/jog.13055

Cited by 11 publications

(8 citation statements)

References 7 publications

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“…As discussed, LOPD is a progressive disorder, if untreated there is an expected decline both in peripheral muscle strength and respiratory function. Thus, the decision about ERT should be based on the individual patient, and special attention should be paid to already existing respiratory compromise, and prior history of immunogenicity against human recombinant alglucosidase alfa [29].…”

Section: Discussionmentioning

confidence: 99%

Pregnancy Outcomes in Late Onset Pompe Disease

Göker-Alpan

Kasturi

Sohi

et al. 2020

Life

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There is limited data on pregnancy outcomes in Pompe Disease (PD) resulting from deficiency of the lysosomal enzyme acid alpha-glucosidase. Late-onset PD is characterized by progressive proximal muscle weakness and decline of respiratory function secondary to the involvement of the respiratory muscles. In a cohort of twenty-five females, the effects of both PD on the course of pregnancy and the effects of pregnancy on PD were investigated. Reproductive history, course of pregnancy, use of Enzyme replacement therapy (ERT), PD symptoms, and outcomes of each pregnancy were obtained through a questionnaire. Among 20 subjects that reported one or more pregnancies, one subject conceived while on ERT and continued therapy through two normal pregnancies with worsening of weakness during pregnancy and improvement postpartum. While fertility was not affected, pregnancy may worsen symptoms, or cause initial symptoms to arise. Complications with pregnancy or birth were not higher, except for an increase in the rate of stillbirths (3.8% compared to the national average of 0.2–0.7%). Given small sample size and possible bias of respondents being only women who have been pregnant, further data may be needed to better analyze the effects of pregnancy on PD, and the effects of ERT on pregnancy outcomes.

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Section: Discussionmentioning

confidence: 99%

Pregnancy Outcomes in Late Onset Pompe Disease

Göker-Alpan

Kasturi

Sohi

et al. 2020

Life

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“…In our case, the patient did not resume her treatment due to her preference. Rohman et al 9 concluded that Cesarean section should only be performed for obstetric reasons. We decided to perform Cesarean section because we observed that the patient did not have enough muscle power and had anxiety about labor.…”

Section: Discussionmentioning

confidence: 99%

“…Rohman et al. 9 reported eight women attending the Royal Free Hospital Lysosomal Storage Disorders Unit. Four of the eight women had seven pregnancies over a period of eight years.…”

Section: Discussionmentioning

confidence: 99%

Delivery and postpartum management of a patient with Pompe disease: Case report and review of the literature

et al. 2017

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Pompe disease is an autosomal-recessive disorder caused by acid alpha-glucosidase deficiency due to mutations in the GAA gene. There are two forms of the disease: infantile-onset Pompe disease and late-onset Pompe disease. The worldwide incidence of both forms of the disease is commonly reported to be 1 in 40,000. Adult patients are affected by limb-girdle muscular weakness and respiratory insufficiency. Enzyme replacement therapy with alglucosidase-alpha is available since 2006. There is little knowledge about pregnant woman with Pompe disease. These women should be considered as high-risk pregnant women. Here, we aim to present Cesarean delivery and postpartum management of a case with an interrupted enzyme replacement therapy during pregnancy.

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“…In 2006, recombinant alglucosidase alfa was approved as ERT, and the clinical course improved on the motor function and respiratory system. However, clinical reports of ERT use during pregnancy are still scarce 1–9 . We report a female patient with LOPD who had continued ERT for 14 years before her first delivery and continued ERT during her pregnancy with the delivery of a healthy baby.…”

Section: Introductionmentioning

confidence: 96%

Pregnancy during enzyme replacement therapy with alglucosidase alfa over a 14‐year period in late‐onset Pompe disease

Yanagihara

Hayasaka

Kageyama

2023

Neurology & Clinical Neurosc

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We report a female patient who developed Pompe disease at 15 years old and received enzyme replacement therapy (ERT) from 25 years old. After 14 years of treatment, she became pregnant. ERT was suspended during the organogenic period as a precaution and restarted at 15 weeks' gestation. During the pregnancy, there were no complications or respiratory problems, but transient muscle weakness was observed during the third trimester. The patient gave birth by vaginal delivery at 39 weeks' gestation. Eight months postpartum, her muscle weakness had recovered slowly, and the patient was able to stand up without help.

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Pregnancy and associated events in women receiving enzyme replacement therapy for late‐onset glycogen storage disease type II (Pompe disease)

Abstract: Individualized care plans are required to ensure the best neonatal and maternal outcomes. Consideration should be given to the potential benefits to mother and fetus of continuing ERT during pregnancy.

Cited by 11 publications

References 7 publications

Pregnancy Outcomes in Late Onset Pompe Disease

Pregnancy Outcomes in Late Onset Pompe Disease

Delivery and postpartum management of a patient with Pompe disease: Case report and review of the literature

Pregnancy during enzyme replacement therapy with alglucosidase alfa over a 14‐year period in late‐onset Pompe disease

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