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
- Berlin, Bochum, Bonn, Freiburg im Breisgau, Giessen, Halle, Hamburg, Mainz, Munich, and Münster, GermanySee 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 9 November 2026.
Where in Germany
- BerlinBerlin, GermanyTaking people
- BerlinBerlin, GermanyTaking people
- BerlinBerlin, GermanyNo longer taking part
- BochumBochum, GermanyTaking people
- BonnBonn, GermanyTaking people
- Freiburg im BreisgauFreiburg im Breisgau, GermanyTaking people
- GiessenGiessen, GermanyTaking people
- HalleHalle, GermanyTaking people
- HamburgHamburg, GermanyTaking people
- MainzMainz, GermanyTaking people
- MunichMunich, GermanyTaking people
- MünsterMünster, GermanyNo longer taking part
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
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.