Pompe Pregnancy Sub-Registry
Study on Pregnancy Outcomes in Women with Pompe Disease, a Rare Genetic Disorder
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
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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. Pompe disease is a rare genetic disorder that affects the body's ability to break down a complex sugar called glycogen. This study does not involve any experimental treatments. Instead, it looks at how pregnancies progress and what outcomes occur, whether or not the women are receiving enzyme replacement therapy (ERT).
Participants in the study will undergo clinical assessments and receive standard care as decided by their doctors. The study aims to collect information on pregnancy complications and infant growth to better understand the experiences of women with Pompe disease during pregnancy.
- Who can participate: Women who are part of the Pompe registry, are pregnant or have been pregnant, have provided consent, and have appropriate medical documentation can participate in this study.
- Study details: Participants will continue with their standard medical care, and data will be collected from their medical records. No experimental treatments are involved in this study.