Pompe Pregnancy Sub-Registry

This study is a registry for women with Pompe disease (Glycogen Storage Disease Type II, a rare genetic disorder) who are pregnant or have recently been pregnant. It aims to understand pregnancy outcomes, including any complications and how babies grow, for women with Pompe disease. This includes women who are receiving enzyme replacement therapy (ERT) with alglucosidase alfa or avalglucosidase alfa, as well as those who are not. Researchers will follow the mothers' pregnancies for about 10 months and then follow their babies for 3 years after birth. To join, you must already be enrolled in the Pompe registry (NCT00231400) and be pregnant or have documentation of a past pregnancy. The study is currently unclear on its recruitment status.

Study design
This is an observational study, meaning no experimental treatment is given. It is designed to track pregnancy outcomes for women with Pompe disease.
What's involved
You would undergo clinical assessments and receive standard of care treatment as determined by your physician. Data collection would be performed after you provide signed consent.
Compensation
Not stated in the trial record.
Follow-up
Pregnancy outcomes will be measured at 10 months, and infants will be followed for 3 years post-partum.

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NCT00567073

Pompe Pregnancy Sub-Registry

Recruiting
Not specifiedAll AgesObservational
Genzyme, a Sanofi Company
~20 participants
Updated 2026-04-16 on ClinicalTrials.gov

At a glance

Recruiting sites
34 of 35 listed sites are recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
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
Measured over 10 Months
+1 more outcome measured
Glycogen Storage Disease Type II (GSD-II)
Pompe Disease (Late-onset)
Glycogenesis 2 Acid Maltase Deficiency

NCT00567073

Where you'd take part

This study runs at 35 sites. They're the same protocol — you choose where, and that choice sets who your contact draft is addressed to.

  • Barrow Neurol Group- Site Number : 840087

    Phoenix, Arizonano site contact published

    Recruiting

  • Columbia University Irving Medical Center- Site Number : 157199

    New York, New Yorkno site contact published

    Recruiting

  • Duke University Medical Center Genetics Dept- Site Number : 840037

    Durham, North Carolinano site contact published

    Recruiting

  • Emory University School Of Medicine- Site Number : 840060

    Atlanta, Georgiano site contact published

    Recruiting

  • Greenwood Genetic Center - Greenville- Site Number : 151184

    Greenville, South Carolinano site contact published

    Recruiting

  • Indianapolis University School of Medicine- Site Number : 840027

    Indianapolis, Indianano site contact published

    Recruiting

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

    São Paulo, Brazilno site contact published

    Recruiting

  • Investigational Site Number : 056001

    Ghent, Belgiumno site contact published

    Recruiting

Sites open and close at different times, so the status above is per site — it can differ from the study's overall status.

  • Study Director · STUDY_DIRECTOR · Genzyme, a Sanofi Company
Trial Transparency email recommended (Toll free number for US & Canada)
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Eligibility criteria

Inclusion

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.
  • 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 alfa10 Months
  • Follow-up of infants born to women with Pompe disease for 3 years post-partum3 years