Actively Recruiting
A Global Prospective Observational Registry of Patients With Pompe Disease
Led by Amicus Therapeutics · Updated on 2026-03-10
500
Participants Needed
41
Research Sites
565 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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
CONDITIONS
Official Title
A Global Prospective Observational Registry of Patients With Pompe Disease
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Diagnosis of late-onset Pompe disease (LOPD) or infantile-onset Pompe disease (IOPD) based on documented deficiency of GAA enzyme activity and/or GAA genotyping
You will not qualify if you...
- Currently receiving investigational therapy for Pompe disease through a clinical trial, compassionate use program, or expanded access program (EAP)
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 41 locations
1
University of Arkansas Medical Science
Little Rock, Arkansas, United States, 72205
Actively Recruiting
2
University of California Irvine
Irvine, California, United States, 92697
Actively Recruiting
3
Wolfson Children's Hospital
Jacksonville, Florida, United States, 32207
Actively Recruiting
4
Emory University
Atlanta, Georgia, United States, 30322
Actively Recruiting
5
Indiana University, IU Health Physicians Neurology
Indianapolis, Indiana, United States, 46202
Actively Recruiting
6
Washington University School of Medicine
St Louis, Missouri, United States, 63110
Actively Recruiting
7
NYU Neurogenetics, NYU Langone Medical Center
New York, New York, United States, 10017
Actively Recruiting
8
Duke University Medical Center
Durham, North Carolina, United States, 27710
Actively Recruiting
9
University of Cincinnati Medical Center
Cincinnati, Ohio, United States, 45219
Actively Recruiting
10
Cincinnati Children's Hospital
Cincinnati, Ohio, United States, 45229
Actively Recruiting
11
University of Pennsylvania Perelman Center for Advanced Medicine
Philadelphia, Pennsylvania, United States, 19104
Actively Recruiting
12
University of Pittsburgh
Pittsburgh, Pennsylvania, United States, 15219
Actively Recruiting
13
UPMC Children's Hospital of Pittsburgh
Pittsburgh, Pennsylvania, United States, 15224
Actively Recruiting
14
University of Utah
Salt Lake City, Utah, United States, 84108
Actively Recruiting
15
Lysosomal and Rare Disorders Research and Treatment Center, Inc.
Fairfax, Virginia, United States, 22030
Actively Recruiting
16
Medizinische Universitaet Wien
Vienna, Austria, 1090
Not Yet Recruiting
17
Laboratory for Muscle Diseases and Neuropathies
Leuven, Belgium, 3000
Actively Recruiting
18
Aarhus Universitets hospital
Aarhus C, Denmark, 8000
Actively Recruiting
19
Ruhr-Universität Bochum im St. Josef-Hospital
Bochum, Germany, 44791
Actively Recruiting
20
SphinCS, Institute of Clinical Science in LSD
Höchheim, Germany, 265239
Actively Recruiting
21
Universitätsklinikum Gießen und Marburg GmhH
Marburg, Germany, 35043
Actively Recruiting
22
Universitat Munchen - Friedrich Baur Institut
München, Germany, 80336
Actively Recruiting
23
Universitaetsklinikum Ulm
Ulm, Germany, 89081
Not Yet Recruiting
24
Eginition Hospital
Athens, Greece, 115228
Not Yet Recruiting
25
University of Pécs
Pécs, Hungary, 7622
Not Yet Recruiting
26
University of Szeged, Szent-Györgyi Albert Clinical Center
Szeged, Hungary, 6722
Not Yet Recruiting
27
Azienda Ospedaliero Universitaria Consorziale Policlinico di Bari
Bari, Italy, 70124
Not Yet Recruiting
28
Centre of Expertise for muscular diseases and peripheral neuropathies European Reference Network for Rare Neuromuscular Diseases
Naples, Italy, 80131
Not Yet Recruiting
29
Department of Neurosciences Rita Levi Montalcini, University of Torino
Torino, Italy, 10126
Not Yet Recruiting
30
Regional Coordinating Centre for Rare Diseases, university Hospital of Udine, Udine, Italy
Udine, Italy, 33100
Not Yet Recruiting
31
Dept of Pediatrics Erasmus MC - Sophia Children's Hospital
Rotterdam, Netherlands, 3015 GD
Not Yet Recruiting
32
entrum Medyczne Medyk
Rzeszów, Poland, 35-055
Not Yet Recruiting
33
University Medical Centre Ljubljana, Institute of Clinical Neurophysiology
Ljubljana, Slovenia, 1000
Not Yet Recruiting
34
Queen Elizabeth Hospital Birmingham
Birmingham, United Kingdom, B15 2TH
Actively Recruiting
35
Cambridge University - Addenbrooke's Hospital
Cambridge, United Kingdom, CB20QQ
Actively Recruiting
36
University Hospital of Wales, Cardiff
Cardiff, United Kingdom, CF14 4XW
Actively Recruiting
37
University Hospital of Wales
Cardiff, United Kingdom, CF14 4XW
Actively Recruiting
38
National Hospital for Neurology and Neurosurgery
London, United Kingdom, WC1N 3BG
Actively Recruiting
39
Great Ormond Street Hospital NHS Foundation Trust
London, United Kingdom, WC1N 3JH
Actively Recruiting
40
Royal Free Hospital NHS Foundation Trust
Manchester, United Kingdom, NW3 2QG
Actively Recruiting
41
Salford Royal NHS Foundation Trust
Salford, United Kingdom, M6 8HD
Actively Recruiting
Research Team
F
For Site
CONTACT
F
For Patient
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
3
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