Pompe disease; new Outcomes measures, Treatment Effect and Novel Targeted Investigations for Advancing Long-term follow-up (POTENTIAL).
Key facts
- Where
- Rotterdam, HollandiaSee the site
- Phase
- 4. fázis
Where in Hollandia
- Erasmus Universitair Medisch Centrum Rotterdam (Erasmus MC)Rotterdam, HollandiaToborzás még nem indult
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
- Erasmus Universitair Medisch Centrum Rotterdam (Erasmus MC)
- Trial code
- EU 2024-520365-31-01
- Record updated
- 2026. október 1.
- Original description
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.Read full original descriptionShow less
A long-term prospective monitoring study of all patients with Pompe Disease. Evaluating natural history, treatment response, disease markers and novel outcome measures.
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.
Inclusion: 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.
Exclusion: There are no exclusion criteria, other than non-compliance to the study procedures.