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
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
This research is a global, multicenter, prospective observational registry studying patients with Pompe disease, including both late-onset (LOPD) and infantile-onset (IOPD) forms. It enrolls both untreated patients and those receiving approved therapies to better understand the long-term safety, real-world effectiveness, and quality of life impacts of treatments for Pompe disease. The study also aims to describe the natural history of untreated Pompe disease. Participants include groups receiving different enzyme replacement therapies such as Cipaglucosidase alfa with Miglustat, other approved ERTs like Alglucosidase alfa or Avalglucosidase alfa, as well as untreated individuals who are not on any medical therapy for Pompe disease. No experimental treatments are given as this is an observational study tracking real-world treatment use and outcomes. During the study, participant data on adverse events, treatment effectiveness, quality of life, and patient-reported outcomes will be collected over a period of at least five years. Researchers will monitor safety through the frequency of adverse events and serious adverse events. Participants' health and treatment impacts will be regularly evaluated to provide long-term insights into Pompe disease management and outcomes.
CONDITIONS
Brief 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) confirmed by documented deficiency of GAA enzyme activity and/or GAA genotyping
You will not qualify if you...
- Currently receiving investigational therapy for Pompe disease in 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
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
Duration - Up to 5 years
Participants are observed over time to evaluate the long-term safety of treatments for Pompe disease, including those receiving enzyme replacement therapy or untreated patients.
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
F
For Patient
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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