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
- Atlanta, Cincinnati, Durham, Fairfax, Indianapolis, Irvine, Jacksonville, Little Rock, New York, Philadelphia, Pittsburgh, Salt Lake City, and St Louis, United StatesSee the 15 sites
Where in United States
- Emory UniversityAtlanta, United StatesTaking people
- Cincinnati Children's HospitalCincinnati, United StatesTaking people
- University of Cincinnati Medical CenterCincinnati, United StatesTaking people
- Duke University Medical CenterDurham, United StatesTaking people
- Lysosomal and Rare Disorders Research and Treatment Center, IncFairfax, United StatesTaking people
- Indiana University, IU Health Physicians NeurologyIndianapolis, United StatesTaking people
- University of California, IrvineIrvine, United StatesTaking people
- Wolfson Children's HospitalJacksonville, United StatesTaking people
- University of Arkansas Medical ScienceLittle Rock, United StatesTaking people
- NYU Neurogenetics, NYU Langone Medical CenterNew York, United StatesTaking people
- University of Pennsylvania - Perelman Center for Advanced MedicinePhiladelphia, United StatesTaking people
- University of PittsburghPittsburgh, United StatesTaking people
- UPMC Children's Hospital of PittsburghPittsburgh, United StatesTaking people
- University of UtahSalt Lake City, United StatesTaking people
- Washington University School of MedicineSt Louis, United StatesTaking 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).