An observational study in Glycogen Storage Disease Type II and Pompe Disease, sponsored by Genzyme, a Sanofi Company. Recruiting at 282 sites in 44 countries. Per ClinicalTrials.gov, last updated 2026-10-28.
Sponsored by Genzyme, a Sanofi Company (part of Sanofi) · Observational
The Pompe Registry is a global, multicenter, international, longitudinal, observational, and voluntary program for patients with Pompe disease, designed to track the disease's natural history and outcomes in patients, both treated and not. Data from the Registry are also used to fulfill various global regulatory commitments, to support product development/reimbursement, and for other research and non-research related purposes.
The objectives of the Registry are:
Study Design Time Perspective: Retrospective and Prospective
162 studies on the registry are indexed under Glycogen Storage Disease Type II; 34 are open to participants now.
This study's planned enrollment of 2,000 is above the median of 50 across 64 observational studies indexed under Glycogen Storage Disease Type II.
Browse Glycogen Storage Disease Type II studies →Genzyme, a Sanofi Company is the lead sponsor of 308 studies on the registry; 5 are open to participants now.
Of its 25 completed or terminated interventional studies of FDA-regulated products, 19 (76%) have results posted.
First submitted before Genzyme became part of Sanofi.
Counted across the registry records on this site, refreshed daily.
All patients with a confirmed diagnosis of Pompe disease are eligible for inclusion in the Registry.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
All patients with a confirmed diagnosis of Pompe disease who have signed the and authorization form(s) are eligible for inclusion. Confirmed diagnosis is defined as documented GAA enzyme deficiency from blood, skin, or muscle tissue and/or documentation of 2 GAA gene mutations.
Exclusion Criteria:
There are no exclusion criteria in this Registry
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Understanding of the variability, progression , identification and natural history of the manifestations of Pompe disease
Time frame: maximum 30 years
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Showing the first 100 of 282 sites across 44 countries. Choose a country and city above to see the rest.
Started Sep 2004 (actual). Primary completion is estimated for Jan 2034, 352 months after the start.
Of 29 observational studies under Glycogen Storage Disease Type II, half reached primary completion within 108 months of starting (the median), counting those still running; a quarter within 33. This study's planned 352 months is above that.
How these figures are worked out, and which studies are left out of them.
From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
Contact study teamGet an email when the registry record changes — status, dates, results — or when someone posts here.
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Nothing here yet. If you are running this trial, taking part in it, or weighing whether to, this is the place to say so.
Glycogen Storage Disease Type II →