Frontlight ResearchEarly access
Not yet taking people in NetherlandsPhase 4
Long-term follow-up of people with Pompe disease to track how it changes
Follows people with Pompe disease over time, checking muscle and lung function.
Key facts
- Who runs it
- Erasmus Universitair Medisch Centrum Rotterdam (Erasmus MC)
- Where
- Rotterdam, NetherlandsSee the site
- Trial code
- Registry title
- Pompe disease; new Outcomes measures, Treatment Effect and Novel Targeted Investigations for Advancing Long-term follow-up (POTENTIAL).
- Status
- Not yet recruiting
- Phase
- Phase 4
- People taking part
- 180 people, planned
- Started
- 1 Sept 2026
- Expected to end
- 31 Aug 2051
- Type of study
- Interventional
- Record updated
- 1 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 trial is looking for people with Pompe disease, young or old, treated or not. It follows how the disease changes over time.
- Sex
- All sexes can join.
- Disease stage
- Confirmed Pompe disease. The person has had at least one check of how severe the disease is.
- Biomarker or test result
- Enzyme deficiency in any tissue source and/or 2 confirmed disease-causing variants in the GAA gene.
Main reasons for not taking part
- Cannot follow the study procedures
The registry criteria, word for word
Show all 4 criteriaShow less
Who can take part
- 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
Who cannot take part
- There are no exclusion criteria, other than non-compliance to the study procedures
Where in Netherlands
- Erasmus Universitair Medisch Centrum Rotterdam (Erasmus MC)Rotterdam, NetherlandsNot yet recruiting
About the trial
What the trial wants to find out
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.
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
Print a page for my doctorData and sources
- Registry record
- Listed on the EU's official list of trials (CTIS).
- Official title
- A long-term prospective monitoring study of all patients with Pompe Disease. Evaluating natural history, treatment response, disease markers and novel outcome measures.
- Plain-language title
- Long-term follow-up of people with Pompe disease to track how it changesGenerated from the registry record. The registry title is the official one.
- AI summary
- From the trial's eligibility criteria. Read by machine on 9 November 2026.
- Record updated
- 1 October 2026