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Taking people in CanadaNo phase

Pompe Disease Registry Following People Over Time

Follows people with Pompe disease, treated or not, to learn how it progresses.

Plain-language title generated from the registry record
Registry title: Pompe Disease Registry Protocol

Key facts

Where
Calgary, Edmonton, Lethbridge, London, Moncton, Montreal, Ottawa, Sherbrooke, Toronto, Vancouver, and Winnipeg, CanadaSee the 12 sites

AI summary: who the study is looking for

From the trial's eligibility criteria. Machine-read from the registry text on this page, so it can be wrong. The registry text below and the trial team decide who can take part.

The registry is looking for people with a confirmed diagnosis of Pompe disease who have signed the consent forms.

Sex
All sexes can join.
Disease stage
Confirmed Pompe disease: a lack of the GAA enzyme shown in blood, skin or muscle tissue, and/or 2 GAA gene mutations on record.
Biomarker or test result
GAA enzyme deficiency from blood, skin or muscle tissue, and/or documentation of 2 GAA gene mutations.

Main reasons for not taking part

  • The record lists no exclusion criteria.
  • People who have not signed the informed consent and authorization forms cannot join.

Read by machine on 12 November 2026.

Where in Canada

  • Calgary, AlbertaHospital not named in the registryContact: Pompe Registry HelpLineTaking people
  • Edmonton, AlbertaHospital not named in the registryContact: Pompe Registry HelpLineNo longer taking part
  • Lethbridge, AlbertaHospital not named in the registryContact: Pompe Registry HelpLineTaking people
  • London, OntarioHospital not named in the registryContact: Pompe Registry HelpLineTaking people
  • Moncton, New BrunswickHospital not named in the registryContact: Pompe Registry HelpLineNo longer taking part
  • Montreal, QuebecHospital not named in the registryContact: Pompe Registry HelpLineTaking people
  • Ottawa, OntarioHospital not named in the registryContact: Pompe Registry HelpLineTaking people
  • Sherbrooke, QuebecHospital not named in the registryContact: Pompe Registry HelpLineTaking people
  • Toronto, OntarioHospital not named in the registryContact: Pompe Registry HelpLineTaking people
  • Vancouver, British ColumbiaHospital not named in the registryContact: Pompe Registry HelpLineTaking people
  • Vancouver, British ColumbiaHospital not named in the registryContact: Pompe Registry HelpLineNo longer taking part
  • Winnipeg, ManitobaHospital not named in the registryContact: Pompe Registry HelpLineNo longer taking part

Questions to ask the study team

  1. How often do I need to come in, and for how long each time?
  2. Are travel costs paid?
  3. Can I keep my own doctor?
  4. What happens if I want to stop?

Contact the study team: see the registry record → Contacts and Locations

Print a page for my doctor

Trial details

Who runs it
Genzyme, a Sanofi Company
Trial code
NCT00231400
Record updated
28 October 2026
Original description
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.Read full original descriptionShow less

Pompe Disease Registry

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:

* To enhance understanding of the variability, progression, identification, and natural history of Pompe disease, with the ultimate goal of better guiding and assessing therapeutic intervention. * To assist the Pompe medical community with the development of recommendations for monitoring patients, and to provide reports on patient outcomes, to optimize patient care. * To characterize the Pompe disease population. * To evaluate the long-term effectiveness of alglucosidase alfa.

Inclusion: All patients with a confirmed diagnosis of Pompe disease who have signed the informed consent 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: There are no exclusion criteria in this Registry.

ClinicalTrials.gov NCT00231400