Pompe Pregnancy Sub-Registry

Study of Pregnancy Outcomes in Women with Pompe Disease

Recruiting
Female
Phase N/A
20 participants needed
9 Locations

Study Overview

This Sub-registry is a multicenter, international, longitudinal, observational, and voluntary program designed to track pregnancy outcomes for any pregnant woman enrolled in the Pompe Registry, regardless of whether she is receiving disease-specific therapy (such as ERT with alglucosidase alfa or avalglucosidase alfa) and irrespective of the commercial product with which she may be treated. No experimental intervention is given; thus a patient will undergo clinical assessments and receive standard of care treatment as determined by the patient's physician.

The primary objective of this Sub-registry is to track pregnancy outcomes, including complications and infant growth, in all women with Pompe disease during pregnancy, regardless of whether they receive disease-specific therapy, such as ERT with alglucosidase alfa or avalglucosidase alfa.

Study Details

Study Design Time Perspective: Retrospective and Prospective

Eligibility Criteria

You may be eligible for this study if you meet the following criteria:

  • Conditions: Glycogen Storage Disease Type II (GSD-II), Pompe Disease (Late-onset), Glycogenesis 2 Acid Maltase Deficiency
  • Gender: Female

Inclusion Criteria:

Eligible women must:

  • be enrolled in the Pompe registry (NCT00231400)
  • be pregnant, or have been pregnant with appropriate medical documentation available.
  • provide a signed informed consent and authorization form(s) to participate in the Sub-Registry prior to any Sub-Registry-related data collection being performed.

Note: It is recommended that pregnancy data be collected on eligible women regardless of infant enrollment. In the event of patients having multiple pregnancies, participation in this Sub-Registry is encouraged for each individual pregnancy.

Exclusion Criteria:

There are no exclusion criteria for this Sub-Registry

This study investigates pregnancy outcomes in women with Pompe disease. This study is part of a larger registry that tracks the health of women with Pompe disease during pregnancy, whether or not they are receiving specific treatments like enzyme replacement therapy (ERT).

Participants will undergo clinical assessments and receive standard care as determined by their healthcare providers. This study does not involve any experimental treatments. Data will be collected to monitor pregnancy complications and infant growth, providing insights into the impacts of Pompe disease on pregnancy.

  • Who can participate: Women who are pregnant or have been pregnant and are enrolled in the Pompe registry can participate. They must provide signed informed consent and have appropriate medical documentation. There are no exclusion criteria for this study.
  • Study details: Participants will have their pregnancy outcomes tracked through clinical assessments and standard care. This observational study does not involve any experimental interventions.
Updated on 14 Jan 2026. Study ID: NCT00567073

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