Pompe Pregnancy Sub-Registry

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

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 Overview

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

Detailed Description

Study Design Time Perspective: Retrospective and Prospective

• Study Type: Observational
• Enrollment (Estimated): 20

Contacts and Locations

• Study Contact: Name: Pompe Registry HelpLine; Phone Number: 617-591-5500
• Study Contact Backup: Name: Trial Transparency email recommended (Toll free number for US & Canada); Phone Number: option 6 800-633-1610; Email: contact-us@sanofi.com

Study Locations

• Belgium
  • Gent, Belgium, 9000
    • Recruiting
    • Investigational Site Number : 056001
• Croatia
  • Zagreb, Croatia, 10000
    • Recruiting
    • Investigational Site Number : 1910001
  • Zagreb, Croatia, 10000
    • Recruiting
    • Investigational Site Number : 1910002
• Czechia
  • Praha, Czechia, 12808
    • Recruiting
    • Investigational Site Number : 2030001
• Italy
  • Brescia, Italy, 25123
    • Recruiting
    • Investigational Site Number : 380008
  • Cagliari, Italy, 09126
    • Recruiting
    • Investigational Site Number : 380006
  • Firenze, Italy, 50141
    • Recruiting
    • Investigational Site Number : 380005
  • Genova, Italy, 16147
    • Recruiting
    • Investigational Site Number : 380004
  • Messina, Italy, 98125
    • Recruiting
    • Investigational Site Number : 380013
  • Milano, Italy, 20133
    • Recruiting
    • Investigational Site Number : 380007
  • Monza, Italy
    • Recruiting
    • Investigational Site Number : 380009
  • Padova, Italy, 35128
    • Recruiting
    • Investigational Site Number : 380002
  • Padova, Italy
    • Recruiting
    • Investigational Site Number : 380011
  • Pavia, Italy, 27100
    • Recruiting
    • Investigational Site Number : 380003
  • Roma, Italy, 00165
    • Recruiting
    • Investigational Site Number : 380015
  • Roma, Italy
    • Recruiting
    • Investigational Site Number : 380012
• United States
  • Arizona
    • Phoenix, Arizona, United States, 85013
      • Recruiting
      • Barrow Neurol Group Site Number : 840087
  • Georgia
    • Atlanta, Georgia, United States, 30322
      • Recruiting
      • Emory University School Of Medicine Site Number : 840060
  • Indiana
    • Indianapolis, Indiana, United States, 46202
      • Recruiting
      • Indianapolis University School of Medicine Site Number : 840027
  • Michigan
    • Grand Rapids, Michigan, United States, 49503
      • Recruiting
      • Spectrum for Health Site Number : 840019
  • New York
    • New York, New York, United States, 10016
      • Recruiting
      • New York University School Of Medicine Site Number : 840040
    • New York, New York, United States, 10029
      • Recruiting
      • Mt. Sinai School of Medicine Site Number : 840005
  • North Carolina
    • Durham, North Carolina, United States, 27710
      • Recruiting
      • Duke University Medical Center Genetics Dept Site Number : 840037
  • Ohio
    • Dublin, Ohio, United States, 43017
      • Recruiting
      • LSD Data Registry Site LLC Site Number : 840094
  • Oregon
    • Portland, Oregon, United States, 97239
      • Completed
      • Oregon Health and Science University Site Number : 840095
  • Virginia
    • Fairfax, Virginia, United States, 22030
      • Recruiting
      • O&O Alpan, LLC Site Number : 840025

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• 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

Description

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 Plan

How is the study designed?

Number of groups / cohorts

4

Cohorts and Interventions

Group / Cohort
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

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Follow-up of infants born to women with Pompe disease for 3 years post-partum	3 years
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

Collaborators and Investigators

• Sponsor: Genzyme, a Sanofi Company
• Investigators: Study Director: Study Director, Genzyme, a Sanofi Company

Study record dates

Study Major Dates

• Study Start (Actual): June 18, 2007
• Primary Completion (Estimated): January 31, 2034
• Study Completion (Estimated): January 31, 2034

Study Registration Dates

• First Submitted: December 1, 2007
• First Submitted That Met QC Criteria: December 1, 2007
• First Posted (Estimated): December 4, 2007

Study Record Updates

• Last Update Posted (Actual): April 8, 2024
• Last Update Submitted That Met QC Criteria: April 4, 2024
• Last Verified: April 1, 2024

More Information

Terms related to this study

• Keywords: GSD-II; Pompe Disease; Acid Maltase Deficiency Disease; Glycogen Storage Disease Type II (GSD-II); Glycogenosis II; Pompe Disease (Late-Onset)
• Additional Relevant MeSH Terms: Pathologic Processes; Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Lysosomal Storage Diseases, Nervous System; Disease; Glycogen Storage Disease Type II; Glycogen Storage Disease
• Other Study ID Numbers: AGLU03506