Pompe Pregnancy Sub-Registry

NCT00567073 | Recruiting

• 1 other identifier: AGLU03506
• Study Type: observational
• Target: 20
• Locations: 9 countries
• Sites: 35

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

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

Keywords

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

Outcome Measures

Primary Outcomes (2)

• 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

  10 Months

• Follow-up of infants born to women with Pompe disease for 3 years post-partum

  3 years

Study Arms (4)

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

Eligibility Criteria

• Sex: female
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Pregnant Females with Pompe disease and/or infants born to females with Pompe disease. Participants may or may not be receiving therapy

You may qualify if:

• 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.

Sponsors & Collaborators

• Genzyme, a Sanofi Company: lead

Study Sites (35)

Barrow Neurol Group- Site Number : 840087

Phoenix, Arizona, 85013, United States

RECRUITING

University of Florida Pediatrics Genetics- Site Number : 157138

Jacksonville, Florida, 32207, United States

RECRUITING

Emory University School Of Medicine- Site Number : 840060

Atlanta, Georgia, 30322, United States

RECRUITING

Indianapolis University School of Medicine- Site Number : 840027

Indianapolis, Indiana, 46202, United States

RECRUITING

University of Iowa- Site Number : 150294

Iowa City, Iowa, 52242-1009, United States

RECRUITING

Spectrum for Health- Site Number : 840019

Grand Rapids, Michigan, 49503, United States

RECRUITING

Washington University- Site Number : 150612

St Louis, Missouri, 63110, United States

RECRUITING

New York University School Of Medicine- Site Number : 840040

New York, New York, 10016, United States

RECRUITING

Mt. Sinai School of Medicine- Site Number : 840005

New York, New York, 10029, United States

RECRUITING

Columbia University Irving Medical Center- Site Number : 157199

New York, New York, 10032, United States

RECRUITING

Duke University Medical Center Genetics Dept- Site Number : 840037

Durham, North Carolina, 27710, United States

RECRUITING

LSD Data Registry Site LLC- Site Number : 840094

Dublin, Ohio, 43017, United States

RECRUITING

Oregon Health and Science University- Site Number : 840095

Portland, Oregon, 97239, United States

COMPLETED

Greenwood Genetic Center - Greenville- Site Number : 151184

Greenville, South Carolina, 29605, United States

RECRUITING

O & O Alpan- Site Number : 840025

Fairfax, Virginia, 22030, United States

RECRUITING

Investigational Site Number : 151069

Westmead, New South Wales, 2145, Australia

RECRUITING

Investigational Site Number : 056001

Ghent, 9000, Belgium

RECRUITING

Instituto de Genética e Erros Inatos do Metabolismo- Site Number : 150978

São Paulo, 04020-041, Brazil

RECRUITING

Investigational Site Number : 1910001

Zagreb, 10000, Croatia

RECRUITING

Investigational Site Number : 1910002

Zagreb, 10000, Croatia

RECRUITING

Investigational Site Number : 2030001

Prague, 128 08, Czechia

RECRUITING

Investigational Site Number : 152200

Bonn, 53127, Germany

RECRUITING

Investigational Site Number : 380005

Florence, Firenze, 50139, Italy

RECRUITING

Investigational Site Number : 380007

Milan, Milano, 20133, Italy

RECRUITING

Investigational Site Number : 380011

Padua, Padova, 35128, Italy

RECRUITING

Investigational Site Number : 380015

Rome, Roma, 00165, Italy

RECRUITING

Investigational Site Number : 380008

Brescia, 25123, Italy

RECRUITING

Investigational Site Number : 380006

Cagliari, 09126, Italy

RECRUITING

Investigational Site Number : 380004

Genova, 16147, Italy

RECRUITING

Investigational Site Number : 380013

Messina, 98125, Italy

RECRUITING

Investigational Site Number : 380009

Monza, Italy

RECRUITING

Investigational Site Number : 380002

Padova, 35128, Italy

RECRUITING

Investigational Site Number : 380003

Pavia, 27100, Italy

RECRUITING

Investigational Site Number : 380012

Roma, Italy

RECRUITING

Investigational Site Number : 87147

Cardiff, Cardiff [Caerdydd Gb-crd], CF14 4XW, United Kingdom

RECRUITING

MeSH Terms

Conditions

Glycogen Storage Disease Type II

Condition Hierarchy (Ancestors)

Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Glycogen Storage Disease; Carbohydrate Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Study Director

  Genzyme, a Sanofi Company

  STUDY DIRECTOR

Central Study Contacts

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

CONTACT

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

Pompe Registry HelpLine

CONTACT

617-591-5500

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: OTHER
• Target Duration: 4 Years
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 1, 2007
• First Posted: December 4, 2007
• Study Start: June 18, 2007
• Primary Completion (Estimated): January 31, 2034
• Study Completion (Estimated): January 31, 2034
• Last Updated: April 16, 2026

Record last verified: 2026-04

Locations

US (15); CZ (1); DE (1); BR (1); AU (1); GB (1); IT (12); BE (1); CR (2)