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.
Plain-language title generated from the registry record
Registry title: A Global Prospective Observational Registry of Patients With Pompe Disease
Key facts
- Where
- Bochum, Höchheim, Marburg, München, and Ulm, GermanySee the 5 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 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
Read by machine on 9 November 2026.
Where in Germany
- Ruhr-Universität Bochum im St. Josef-HospitalBochum, GermanyTaking people
- SphinCS, Institute of Clinical Science in LSDHöchheim, GermanyTaking people
- Universitätsklinikum Gießen und Marburg GmhHMarburg, GermanyTaking people
- Universitat Munchen - Friedrich Baur InstitutMünchen, GermanyTaking people
- Universitaetsklinikum UlmUlm, GermanyNot yet recruiting
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
- Amicus Therapeutics
- Trial code
- NCT06121011
- Record updated
- 10 March 2026
- Original description
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
A Global Prospective Observational Registry of Patients With Pompe Disease
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.
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
Inclusion: Diagnosis of LOPD or IOPD based on documented deficiency of GAA enzyme activity and/or GAA genotyping.
Exclusion: Patients who are currently receiving investigational therapy for Pompe disease in a clinical trial, a compassionate use program, or an expanded access program (EAP).