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Pompe Pregnancy Sub-Registry

Observational Study of Pregnancy Outcomes in Women with Pompe Disease

Recruiting
Female
Phase N/A

This study investigates pregnancy outcomes in women with Pompe disease. Pompe disease is a rare genetic disorder that affects muscle function due to the buildup of glycogen in the body's cells. The purpose of this study is to track pregnancy outcomes, such as complications and infant growth, in women with Pompe disease, whether or not they are receiving enzyme replacement therapy (ERT).

Participants in this study will undergo clinical assessments and receive standard care as determined by their physician. There are no experimental interventions involved. An observational study is a type of research study where data is collected by observing participants receiving routine care, without changing their treatment, which may focus on people using specific medications or having certain conditions to better understand how treatments work.

  • Who can participate: Eligible participants are women enrolled in the Pompe registry who are currently pregnant or have been pregnant, with appropriate medical documentation. Signed informed consent is required.
  • Study details: Participants will provide informed consent and have their pregnancy data collected. This study does not involve any experimental treatments but follows standard care practices.
Study details
    Glycogen Storage Disease Type II (GSD-II)
    Pompe Disease (Late-onset)
    Glycogenesis 2 Acid Maltase Deficiency

NCT00567073

Genzyme, a Sanofi Company

14 August 2025

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