Pompe Pregnancy Sub-Registry

Genzyme

Status: Enrolling

Conditions: Pompe Disease (Late-onset); Glycogenesis 2 Acid Maltase Deficiency; Glycogen Storage Disease Type II (GSD-II)

Study type: Observational

Funder types: Industry

Identifiers

NCT00567073

AGLU03506

Details and patient eligibility

About

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.

Full description

Study Design Time Perspective: Retrospective and Prospective

Enrollment: 20 estimated patients

Sex: Female

Volunteers: No Healthy Volunteers

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

Trial design

20 participants in 4 patient groups

Pregnant women with confirmed diagnosis of Pompe Disease

Description:

No experimental intervention is given. Pregnant women with confirmed diagnosis of Pompe disease that are participating in the Pompe Registry (NCT00231400) and consented to participate in the Pompe Pregnancy Sub-registry, regardless of whether she is receiving disease-specific therapy (such as ERT with alglusidase alfa or avalglucosidase alfa) and irrespective of the commercial product with which she may be treated.

Pregnant women receiving no treatment for Pompe disease

Description:

Pregnant women with Pompe disease enrolled in the Pompe disease registry (NCT00231400) who are not receiving treatment

Infants born to mothers receiving treatment for Pompe disease

Description:

The infants of mothers with Pompe disease enrolled in the Pompe disease registry (NCT00231400) where the mothers are receiving treatment of alglucosidase alfa (Myozyme/Lumizyme) or avalglucosidase alfa (Nexviadyme/Nexviazyme)

Infants born to mothers receiving no treatment for Pompe disease

Description:

The infants of mothers with Pompe disease enrolled in the Pompe Disease Registry (NCT00231400) where the mothers are not receiving Treatment