Pompe Disease Registry Following People Over Time
Follows people with Pompe disease, treated or not, to learn how it progresses.
Key facts
- Who runs it
- Genzyme, a Sanofi Company
- Where
- Rotterdam, NetherlandsSee the siteAlso in 43 other countries, 281 sites
- Trial code
- Registry title
- Pompe Disease Registry Protocol
- Status
- Recruiting
- People taking part
- 2,000 people, planned
- Started
- 15 Sept 2004
- Expected to end
- 31 Jan 2034
- Type of study
- Observational
- Record updated
- 28 October 2026
Who can take part
AI summary
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.
The registry criteria, word for word
Show all 2 criteriaShow less
Who can take part
- 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
Who cannot take part
- There are no exclusion criteria in this Registry
Where in Netherlands
Also in 43 other countries, 281 sites
- RotterdamHospital not named in the registryContact: Pompe Registry HelpLineTaking people
About the trial
What the trial wants to find out
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
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.
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?
Contact the study team: see the registry record → Contacts and Locations
Print a page for my doctorData and sources
- Registry record
- Listed on ClinicalTrials.gov.
- Official title
- Pompe Disease Registry
- Plain-language title
- Pompe Disease Registry Following People Over TimeGenerated from the registry record. The registry title is the official one.
- AI summary
- From the trial's eligibility criteria. Read by machine on 12 November 2026.
- Record updated
- 28 October 2026