Glycogen Storage Disease Type II (GSD-II)NCT00567073
Pompe Pregnancy Sub-Registry
An observational study of Glycogen Storage Disease Type II (GSD-II) and Pompe Disease (Late-onset), run by Genzyme, a Sanofi Company at 35 sites in 9 countries.
Trial 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)… Read more about this study
- Who is it for?
- Any age, women only
- Conditions the study is for
- Glycogen Storage Disease Type II (GSD-II), Pompe Disease (Late-onset), Glycogenesis 2 Acid Maltase Deficiency
- How many people
- 20 participants
- Where
- 35 sitesin 9 countries
- Study dates
- 18 Jun 2007to 31 Jan 2034
- How long will I take part?
- 4 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- Women only
- No healthy volunteers
- Child, Adult, Older adult
Study population: Pregnant Females with Pompe disease and/or infants born to females with Pompe disease. Participants may or may not be receiving therapy
Who may be able to join
- 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.
Who cannot join
- There are no exclusion criteria for this Sub-Registry
Trial locations and contacts
35 sites in 9 countries. Contact the study team or a site near you to ask about taking part.
Trial Transparency email recommended (Toll free number for US & Canada) contact
Pompe Registry HelpLine contact
35 sites in 9 countries
United States15 sites, 14 recruiting
- Recruiting
Emory University School Of Medicine- Site Number : 840060
Atlanta, Georgia, 30322
- Recruiting
LSD Data Registry Site LLC- Site Number : 840094
Dublin, Ohio, 43017
- Recruiting
Duke University Medical Center Genetics Dept- Site Number : 840037
Durham, North Carolina, 27710
- Recruiting
O & O Alpan- Site Number : 840025
Fairfax, Virginia, 22030
- Recruiting
Spectrum for Health- Site Number : 840019
Grand Rapids, Michigan, 49503
- Recruiting
Greenwood Genetic Center - Greenville- Site Number : 151184
Greenville, South Carolina, 29605
- Recruiting
Indianapolis University School of Medicine- Site Number : 840027
Indianapolis, Indiana, 46202
- Recruiting
University of Iowa- Site Number : 150294
Iowa City, Iowa, 52242-1009
- Recruiting
University of Florida Pediatrics Genetics- Site Number : 157138
Jacksonville, Florida, 32207
- Recruiting
New York University School Of Medicine- Site Number : 840040
New York, New York, 10016
- Recruiting
Mt. Sinai School of Medicine- Site Number : 840005
New York, New York, 10029
- Recruiting
Columbia University Irving Medical Center- Site Number : 157199
New York, New York, 10032
- Recruiting
Barrow Neurol Group- Site Number : 840087
Phoenix, Arizona, 85013
- Completed
Oregon Health and Science University- Site Number : 840095
Portland, Oregon, 97239
- Recruiting
Washington University- Site Number : 150612
St Louis, Missouri, 63110
Italy12 sites, 12 recruiting
- Recruiting
Investigational Site Number : 380008
Brescia, 25123
- Recruiting
Investigational Site Number : 380006
Cagliari, 09126
- Recruiting
Investigational Site Number : 380005
Florence, Firenze, 50139
- Recruiting
Investigational Site Number : 380004
Genova, 16147
- Recruiting
Investigational Site Number : 380013
Messina, 98125
- Recruiting
Investigational Site Number : 380007
Milan, Milano, 20133
- Recruiting
Investigational Site Number : 380009
Monza
- Recruiting
Investigational Site Number : 380002
Padova, 35128
- Recruiting
Investigational Site Number : 380011
Padua, Padova, 35128
- Recruiting
Investigational Site Number : 380003
Pavia, 27100
- Recruiting
Investigational Site Number : 380012
Roma
- Recruiting
Investigational Site Number : 380015
Rome, Roma, 00165
Croatia2 sites, 2 recruiting
- Recruiting
Investigational Site Number : 1910001
Zagreb, 10000
- Recruiting
Investigational Site Number : 1910002
Zagreb, 10000
Australia1 site, 1 recruiting
- Recruiting
Investigational Site Number : 151069
Westmead, New South Wales, 2145
Belgium1 site, 1 recruiting
- Recruiting
Investigational Site Number : 056001
Ghent, 9000
Brazil1 site, 1 recruiting
- Recruiting
Instituto de Genética e Erros Inatos do Metabolismo- Site Number : 150978
São Paulo, 04020-041
Czechia1 site, 1 recruiting
- Recruiting
Investigational Site Number : 2030001
Prague, 128 08
Germany1 site, 1 recruiting
- Recruiting
Investigational Site Number : 152200
Bonn, 53127
United Kingdom1 site, 1 recruiting
- Recruiting
Investigational Site Number : 87147
Cardiff, Cardiff [Caerdydd Gb-crd], CF14 4XW
About this study
Official title: 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.
Read the detailed description
Study Design Time Perspective: Retrospective and Prospective
- Conditions
- Glycogen Storage Disease Type II (GSD-II), Pompe Disease (Late-onset), Glycogenesis 2 Acid Maltase Deficiency
- Keywords
- Glycogen Storage Disease Type II (GSD-II), GSD-II, Pompe Disease, Pompe Disease (Late-Onset), Acid Maltase Deficiency Disease, Glycogenosis II
- Medical subject headings
- Glycogen Storage Disease Type II
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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 being measured
The primary outcome is the main question the study is designed to answer.
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: 10 Months
Follow-up of infants born to women with Pompe disease for 3 years post-partum
Measured: 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted4 Dec 2007 (estimated)
- Study start18 Jun 2007
- Primary completion31 Jan 2034 (estimated)
- Study completion31 Jan 2034 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Glycogen Storage Disease Type II (GSD-II)Studies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Other
- Enrolment
- 20 participants (estimated)
- Target duration
- 4 Years
Sponsor and investigators
- Lead sponsor
- Genzyme, a Sanofi Company
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Study Director, Study director, Genzyme, a Sanofi Company
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00567073
- Sponsor's protocol ID
- AGLU03506
- Status last verified
- Apr 2026
- First submitted
- 1 Dec 2007
- Last updated
- 16 Apr 2026
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 16 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Sub-registry to Observe the Effect of Alglucosidase Alfa or Avalglucosidase Alfa Treatment on Pregnancy and Infant Growth in Women With Pompe Disease
- ClinicalTrials.gov ID
- NCT00567073
- Acronym / sponsor ID
- AGLU03506
- Conditions
- Glycogen Storage Disease Type II (GSD-II), Pompe Disease (Late-onset), Glycogenesis 2 Acid Maltase Deficiency
- Keywords
- Glycogen Storage Disease Type II (GSD-II), GSD-II, Pompe Disease, Pompe Disease (Late-Onset), Acid Maltase Deficiency Disease, Glycogenosis II
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 20 participants (estimated)
- Lead sponsor
- Genzyme, a Sanofi CompanyIndustry (pharma, biotech, devices)
- Study start
- 18 Jun 2007 (actual)
- Primary completion
- 31 Jan 2034 (estimated)
- Study completion
- 31 Jan 2034 (estimated)
- First posted
- 4 Dec 2007 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
Study Design Time Perspective: Retrospective and Prospective
Study design
- Observational model
- Other
- Time perspective
- Other
- Target follow-up
- 4 Years
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| 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 |
Who may qualify
- Sex
- Female only
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Pregnant Females with Pompe disease and/or infants born to females with Pompe disease. Participants may or may not be receiving therapy
Key inclusion criteria (5 listed)
- 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.
Key exclusion criteria (1 listed)
- There are no exclusion criteria for this Sub-Registry
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 16 Apr 2026.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Trial Transparency email recommended (Toll free number for US & Canada) contact
Pompe Registry HelpLine contact
Study Director study director
Genzyme, a Sanofi Company
35 sites in 9 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Glycogen Storage Disease Type II (GSD-II) and Pompe Disease (Late-onset), run by Genzyme, a Sanofi Company at 35 sites in 9 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 16 Apr 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 35 sites in United States, Italy, Croatia, Australia, Belgium and 4 more countries. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Trial Transparency email recommended (Toll free number for US & Canada) (800-633-1610 ext. option 6, Contact-us@sanofi.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the 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). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 16 Apr 2026.