Recruiting

Observational Study

Sponsor:

Genzyme, a Sanofi Company

Code:

NCT00567073

Conditions

Glycogen Storage Disease Type II (GSD-II)

Pompe Disease (Late-onset)

Glycogenesis 2 Acid Maltase Deficiency

Eligibility Criteria

Sex: Female

Age: 0+

Healthy Volunteers: Not accepted

Study Details

Brief summary:

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.

Conditions

Glycogen Storage Disease Type II (GSD-II)

Pompe Disease (Late-onset)

Glycogenesis 2 Acid Maltase Deficiency

Study ID

NCT00567073

Start date

Jun 18, 2007

Status verified date

Apr, 2026

Completion date

Jan 31, 2034

Anticipated

Primary completion date

Jan 31, 2034

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: Female

Age: 0+

Healthy Volunteers: Not accepted

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

Study Design

Enrollment

20 participants

Anticipated

Interventions and Outcome Measures

Arms

Pregnant women with confirmed diagnosis of Pompe Disease

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

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

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

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

Primary outcome measure

  • 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 ]

Central Contacts and Locations

Central contacts

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

800-633-1610Contact-us@sanofi.com

Pompe Registry HelpLine

617-591-5500

Locations

Barrow Neurol Group- Site Number : 840087

Recruiting

Phoenix, Arizona, United States, 85013

University of Florida Pediatrics Genetics- Site Number : 157138

Recruiting

Jacksonville, Florida, United States, 32207

Emory University School Of Medicine- Site Number : 840060

Recruiting

Atlanta, Georgia, United States, 30322

Indianapolis University School of Medicine- Site Number : 840027

Recruiting

Indianapolis, Indiana, United States, 46202

University of Iowa- Site Number : 150294

Recruiting

Iowa City, Iowa, United States, 52242-1009

Spectrum for Health- Site Number : 840019

Recruiting

Grand Rapids, Michigan, United States, 49503

Washington University- Site Number : 150612

Recruiting

St Louis, Missouri, United States, 63110

New York University School Of Medicine- Site Number : 840040

Recruiting

New York, New York, United States, 10016

Mt. Sinai School of Medicine- Site Number : 840005

Recruiting

New York, New York, United States, 10029

Columbia University Irving Medical Center- Site Number : 157199

Recruiting

New York, New York, United States, 10032

Duke University Medical Center Genetics Dept- Site Number : 840037

Recruiting

Durham, North Carolina, United States, 27710

LSD Data Registry Site LLC- Site Number : 840094

Recruiting

Dublin, Ohio, United States, 43017

Greenwood Genetic Center - Greenville- Site Number : 151184

Recruiting

Greenville, South Carolina, United States, 29605

O & O Alpan- Site Number : 840025

Recruiting

Fairfax, Virginia, United States, 22030

More Information

Sponsor

Genzyme, a Sanofi Company

Last update posted

Apr 16, 2026

Last verified

Apr, 2026

Keywords

  • Glycogen Storage Disease Type II (GSD-II)
  • GSD-II
  • Pompe Disease
  • Pompe Disease (Late-Onset)
  • Acid Maltase Deficiency Disease
  • Glycogenosis II

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-09. This information was provided to ClinicalTrials.gov by Genzyme, a Sanofi Company on 2026-04-16.