Pompe Pregnancy Sub-Registry

Study of Pregnancy Outcomes in Women With Pompe Disease

Recruiting
Female
Phase N/A
20 participants needed
14 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

The purpose of this research study is to track pregnancy outcomes, including complications and infant growth, in women with Pompe disease who are pregnant or have been pregnant.

Participants will not receive an investigational study drug as part of this study. Participants will receive their usual medical care during pregnancy, as decided by their own doctor. The study team will collect information from medical records and clinical check-ups over time.

Who can participate:
Women with Pompe disease may be able to participate if they:

  • Are enrolled in the Pompe Registry
  • Are currently pregnant, or have been pregnant and have medical records available

Updated on 15 Apr 2026. Study ID: NCT00567073

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