2024-520365-31-01Not yet recruitingPhase 4
Pompe disease; new Outcomes measures, Treatment Effect and Novel Targeted Investigations for Advancing Long-term follow-up (POTENTIAL).
A long-term prospective monitoring study of all patients with Pompe Disease. Evaluating natural history, treatment response, disease markers and novel outcome measures.
Source: EU CTIS (euclinicaltrials.eu) · Last updated 1 Oct 2026
Brief summary (registry, in English)
To investigate the progression of Pompe disease over time within predefined age and treatment groups using age-appropriate outcome measures of muscle and pulmonary function.
- Status (registry)
- Not yet recruiting
- Phase (registry)
- Phase 4
- Study type
- Interventional
- Enrollment
- 180 (estimated)
- First submitted
- 4 Aug 2026
- Start date
- 1 Sept 2026
- Lead sponsor
- Erasmus Universitair Medisch Centrum Rotterdam (Erasmus MC)
- Diseases
- Pompe disease
- EU CT number
- 2024-520365-31-01
What you commit to
- Study type: Interventional · Phase 4
- Planned participants: 180
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of EU CTIS (euclinicaltrials.eu). It describes the study design.
Who cannot take part
Copied verbatim from EU CTIS (euclinicaltrials.eu) and grouped by topic. Only the trial team decides who can take part.
Other
- There are no exclusion criteria, other than non-compliance to the study procedures
Who the study is looking for
- Confirmed diagnosis of Pompe disease: enzyme deficiency in any tissue source and/or 2 confirmed disease-causing variants in the GAA gene
- Willing to adhere to study procedures (which are feasible), including signed informed consent
- Patient has had at least one evaluation through which the severity of the disease has been assessed
Sex: All · Does not accept healthy volunteers
Sites (1)
Sites in registry order. Save your city in your profile to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| Erasmus Universitair Medisch Centrum Rotterdam (Erasmus MC) | Rotterdam | Netherlands | Not yet recruiting |
This page is information, not medical advice. Discuss any trial with your doctor.