Pompe Pregnancy Sub-Registry

Observational Study on Pregnancy Outcomes in Women with Pompe Disease

Recruiting
Female
Phase N/A
20 participants needed
1 Location

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 the pregnancy outcomes in women with Pompe disease. The purpose of this study is to track outcomes during pregnancy, including complications and infant growth, for women with this condition.

The study focuses on understanding how pregnancy progresses in women with Pompe disease, whether they receive disease-specific treatments or not. It aims to collect data to better understand the condition's impact on pregnancy and to improve care for these women.

  • Who can participate: Women of all ages who are part of the Pompe registry and are currently pregnant or have been pregnant with proper medical documentation are eligible. They must provide informed consent to participate.
  • Study details: Participants will provide data on their pregnancy outcomes, including any complications and infant growth. This is an observational study where no investigational treatments are given, and participants will receive standard care as determined by their doctors.
Updated on 15 Apr 2026. Study ID: NCT00567073

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