Long-term registry following people with Pompe disease over time
Records safety, real-world results and daily life of people with Pompe disease, treated or untreated.
Key facts
- Who runs it
- Amicus Therapeutics
- Where
- Leuven, BelgiumSee the siteAlso in 11 other countries, 40 sites
- Trial code
- Registry title
- A Global Prospective Observational Registry of Patients With Pompe Disease
- Status
- Recruiting
- People taking part
- 500 people, planned
- Started
- 16 Feb 2024
- Expected to end
- 20 Dec 2034
- Type of study
- Observational, 3 groups
- Treatments tested
- Cipaglucosidase alfa
- Miglustat
- Alglucosidase alfa or Avalglucosidase alfa
- Untreated
- Record updated
- 10 March 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 trial is looking for people with late-onset or infantile-onset Pompe disease, treated or not. It follows them over time to see how treatments work and how the disease develops.
- Sex
- All sexes can join.
- Disease stage
- Late-onset Pompe disease (LOPD) or infantile-onset Pompe disease (IOPD), confirmed by low GAA enzyme activity and/or GAA genotyping.
- Earlier treatment
- People can be untreated or on an approved Pompe disease treatment. People now taking an investigational Pompe therapy cannot join.
- Biomarker or test result
- Documented low GAA enzyme activity and/or GAA genotyping that confirms Pompe disease.
Main reasons for not taking part
- Currently receiving investigational therapy for Pompe disease in a clinical trial, compassionate use program, or expanded access program
The registry criteria, word for word
Show all 2 criteriaShow less
Who can take part
- Diagnosis of LOPD or IOPD based on documented deficiency of GAA enzyme activity and/or GAA genotyping
Who cannot take part
- Patients who are currently receiving investigational therapy for Pompe disease in a clinical trial, a compassionate use program, or an expanded access program (EAP)
Where in Belgium
Also in 11 other countries, 40 sites
- Laboratory for Muscle Diseases and NeuropathiesLeuven, BelgiumContact: For SiteTaking people
About the trial
What the trial wants to find out
This is a global, multicenter, prospective, observational registry of patients with Pompe disease, including those with late-onset pompe disease (LOPD) and infantile-onset pompe disease (IOPD). Both untreated patients and those being treated with an approved therapy for Pompe disease are eligible to participate.
Read full original descriptionShow less
The objectives of the registry are:
* To evaluate the long-term safety of Pompe disease treatments through collection of data that describe the frequency of adverse events (AEs)/serious adverse events (SAEs) occurring in Pompe disease patients * To evaluate the long-term real-world effectiveness of Pompe disease treatments * To evaluate the long-term real-world impact of Pompe disease treatments on quality of life (QOL) and patient-reported outcomes (PROs) * To describe the natural history of untreated Pompe disease
The 3 groups in the trial
- Cipaglucosidase alfa/Miglustat-treated patients
Treatment: Cipaglucosidase alfa and Miglustat
- Other Enyzme Replacement Therapy (ERT)-treated patients
Treatment: Alglucosidase alfa or Avalglucosidase alfa
- Untreated patients (those who are not currently receiving any medical therapy for Pompe disease)
Treatment: Untreated
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
- A Global Prospective Observational Registry of Patients With Pompe Disease
- Plain-language title
- Long-term registry following people with Pompe disease 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
- 10 March 2026