Pompe Pregnancy Sub-Registry

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.

Recruiting

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Key information

Conditions

Glycogen Storage Disease Type II (GSD-II) Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Carbohydrate Metabolism, Inborn Errors Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Glycogen Storage Disease Glycogen Storage Disease Type II Glycogenesis 2 Acid Maltase Deficiency Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases Pompe Disease (Late-onset)

Sex eligibility

Female

Study type

Observational

Primary location

Investigational Site Number : 151069, Westmead, New South Wales, Australia

About this study

Study Design Time Perspective: Retrospective and Prospective

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

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

Time frame: 10 Months
Follow-up of infants born to women with Pompe disease for 3 years post-partum

Time frame: 3 years

Study contacts

Contact information is provided by the study sponsor or research team.

Pompe Registry HelpLine

CONTACT

617-591-5500

Trial Transparency email recommended (Toll free number for US & Canada)

CONTACT

[email protected]

800-633-1610 ext. option 6

Sponsors and collaborators

Lead sponsor

Genzyme, a Sanofi Company

Industry

Registry information

Official study title

A Sub-registry to Observe the Effect of Alglucosidase Alfa or Avalglucosidase Alfa Treatment on Pregnancy and Infant Growth in Women With Pompe Disease

Important dates

Study start: 2007
Primary completion: 2034
Study completion: 2034
First posted: Dec 4, 2007
Registry last updated: Apr 16, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed