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
- Birmingham, Cambridge, Cardiff, London, Manchester, and Salford, United KingdomSee the 8 sites
Where in United Kingdom
- Queen Elizabeth Hospital BirminghamBirmingham, United KingdomTaking people
- Cambridge University - Addenbrooke's HospitalCambridge, United KingdomTaking people
- University Hospital of WalesCardiff, United KingdomTaking people
- University Hospital of Wales, CardiffCardiff, United KingdomTaking people
- Great Ormond Street Hospital NHS Foundation TrustLondon, United KingdomTaking people
- National Hospital For Neurology and NeurosurgeryLondon, United KingdomTaking people
- Royal Free Hospital NHS Foundation TrustManchester, United KingdomTaking people
- Salford Royal NHS Foundation TrustSalford, United KingdomTaking people
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).