Pregnancy during enzyme replacement therapy for late-onset acid maltase deficiency

Zagnoli, Fabien; Leblanc, A.; Blanchard, C.

doi:10.1016/j.nmd.2012.11.006

Cited by 13 publications

(13 citation statements)

References 7 publications

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“…muscle weakness and respiratory complications, might become manifest or worsen during pregnancy. Two single case reports on pregnancy with ERT demonstrated similar results with increased muscle weakness and respiratory problems starting around the 26th week of pregnancy (de Vries et al 2011;Zagnoli et al 2013).…”

Section: Discussionmentioning

confidence: 74%

“…Two successful pregnancies with ongoing ERT have been described so far (de Vries et al 2011;Zagnoli et al 2013). Our patient discontinued ERT during both pregnancies.…”

Section: Discussionmentioning

confidence: 78%

“…Data on pregnancy in Pompe disease are rare (Cilliers et al 2008;de Vries et al 2011;Zagnoli et al 2013;Karabul et al 2014), and no twin pregnancy has been reported so far.…”

Section: Introductionmentioning

confidence: 99%

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Multiple, Successful Pregnancies in Pompe Disease

et al. 2015

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Pompe disease is an autosomal recessive lysosomal storage disease characterized in adult patients by slowly progressive limb-girdle muscle weakness and respiratory insufficiency. Data on pregnancy in women with Pompe disease, intrauterine development of the fetus and parturition are rare. Here we describe a twin pregnancy followed by a second pregnancy in a 38-year-old female patient with Pompe disease. We report the impact of pregnancy on muscle and respiratory functions as well as the neurological and endocrine systems and discuss the medical consequences for anaesthetic management at parturition.

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Section: Discussionmentioning

confidence: 74%

“…Two successful pregnancies with ongoing ERT have been described so far (de Vries et al 2011;Zagnoli et al 2013). Our patient discontinued ERT during both pregnancies.…”

Section: Discussionmentioning

confidence: 78%

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Multiple, Successful Pregnancies in Pompe Disease

et al. 2015

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“…Pregnant women with Gaucher, Fabry and (more recently) Pompe disease, are creating a new clinical challenge for obstetricians 43,44 . Until 2014, two cases of pregnant women with PD receiving ERT have been published 44,45 . Recently, Karabul et al 46 collected information on 52 women with PD-A and 125 pregnancies through a retrospective self-administered questionnaire sent to Pompe associations in England and Germany, as well as neuromuscular disease centers in Germany.…”

Section: Pregnancy Lactation and Enzyme Replacement Therapymentioning

confidence: 99%

Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease

Llerena

Nascimento

Oliveira

et al. 2015

Arq. Neuro-Psiquiatr.

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Pompe disease (PD) is a potentially lethal illness involving irreversible muscle damage resulting from glycogen storage in muscle fiber and activation of autophagic pathways. A promising therapeutic perspective for PD is enzyme replacement therapy (ERT) with the human recombinant enzyme acid alpha-glucosidase (Myozyme®). The need to organize a diagnostic flowchart, systematize clinical follow-up, and establish new therapeutic recommendations has become vital, as ERT ensures greater patient longevity. A task force of experienced clinicians outlined a protocol for diagnosis, monitoring, treatment, genetic counseling, and rehabilitation for PD patients. The study was conducted under the coordination of REBREPOM, the Brazilian Network for Studies of PD. The meeting of these experts took place in October 2013, at L’Hotel Port Bay in São Paulo, Brazil. In August 2014, the text was reassessed and updated. Given the rarity of PD and limited high-impact publications, experts submitted their views.

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“…99 On the other hand, there are only two reports in the literature which describe a normal outcome in 2 babies whose mothers with Pompe disease were successfully and safely treated with alglucosidase alfa throughout their pregnancies. 100,101 More clinical experience with the prenatal use of alglucosidase alfa is needed to establish its safety.…”

Section: The University Of Kansas Medical Center Case Seriesmentioning

confidence: 99%