Pompe disease patients invited to join worldwide registry
NCT ID NCT06121011
First seen Jun 26, 2026 · Last updated Jun 27, 2026 · Updated 1 time
Summary
This study is a global registry that will follow about 500 people with Pompe disease over time. It includes both treated and untreated patients, and aims to collect real-world data on treatment safety, effectiveness, and quality of life. No new treatments are being tested—this is purely an observational study to better understand the disease and its management.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Get updates
Get notified about this study
Sign up to get updates when this study changes or when new studies for INFANTILE-ONSET POMPE DISEASE are added.
By submitting, you agree to our Terms of use
Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Show contact details
Enter your email to view the contact information for this study.
By submitting, you agree to our Terms of use
Study contacts
-
Contact
Email: •••••@•••••
Locations
-
Aarhus Universitets hospital
RECRUITINGAarhus C, 8000, Denmark
-
Azienda Ospedaliero Universitaria Consorziale Policlinico di Bari
NOT_YET_RECRUITINGBari, 70124, Italy
-
Cambridge University - Addenbrooke's Hospital
RECRUITINGCambridge, CB20QQ, United Kingdom
-
Centre of Expertise for muscular diseases and peripheral neuropathies European Reference Network for Rare Neuromuscular Diseases
NOT_YET_RECRUITINGNaples, 80131, Italy
-
Cincinnati Children's Hospital
RECRUITINGCincinnati, Ohio, 45229, United States
-
Department of Neurosciences Rita Levi Montalcini, University of Torino
NOT_YET_RECRUITINGTorino, 10126, Italy
-
Dept of Pediatrics Erasmus MC - Sophia Children's Hospital
NOT_YET_RECRUITINGRotterdam, 3015 GD, Netherlands
-
Duke University Medical Center
RECRUITINGDurham, North Carolina, 27710, United States
-
Eginition Hospital
NOT_YET_RECRUITINGAthens, 115228, Greece
-
Emory University
RECRUITINGAtlanta, Georgia, 30322, United States
-
Great Ormond Street Hospital NHS Foundation Trust
RECRUITINGLondon, WC1N 3JH, United Kingdom
-
Indiana University, IU Health Physicians Neurology
RECRUITINGIndianapolis, Indiana, 46202, United States
-
Laboratory for Muscle Diseases and Neuropathies
RECRUITINGLeuven, 3000, Belgium
-
Lysosomal and Rare Disorders Research and Treatment Center, Inc.
RECRUITINGFairfax, Virginia, 22030, United States
-
Medizinische Universitaet Wien
NOT_YET_RECRUITINGVienna, 1090, Austria
-
NYU Neurogenetics, NYU Langone Medical Center
RECRUITINGNew York, New York, 10017, United States
-
National Hospital for Neurology and Neurosurgery
RECRUITINGLondon, WC1N 3BG, United Kingdom
-
Queen Elizabeth Hospital Birmingham
RECRUITINGBirmingham, B15 2TH, United Kingdom
-
Regional Coordinating Centre for Rare Diseases, university Hospital of Udine, Udine, Italy
NOT_YET_RECRUITINGUdine, 33100, Italy
-
Royal Free Hospital NHS Foundation Trust
RECRUITINGManchester, NW3 2QG, United Kingdom
-
Ruhr-Universität Bochum im St. Josef-Hospital
RECRUITINGBochum, 44791, Germany
-
Salford Royal NHS Foundation Trust
RECRUITINGSalford, M6 8HD, United Kingdom
-
SphinCS, Institute of Clinical Science in LSD
RECRUITINGHöchheim, 265239, Germany
-
UPMC Children's Hospital of Pittsburgh
RECRUITINGPittsburgh, Pennsylvania, 15224, United States
-
Universitaetsklinikum Ulm
NOT_YET_RECRUITINGUlm, 89081, Germany
-
Universitat Munchen - Friedrich Baur Institut
RECRUITINGMünchen, 80336, Germany
-
University Hospital of Wales
RECRUITINGCardiff, CF14 4XW, United Kingdom
-
University Hospital of Wales, Cardiff
RECRUITINGCardiff, CF14 4XW, United Kingdom
-
University Medical Centre Ljubljana, Institute of Clinical Neurophysiology
NOT_YET_RECRUITINGLjubljana, 1000, Slovenia
-
University of Arkansas Medical Science
RECRUITINGLittle Rock, Arkansas, 72205, United States
-
University of California Irvine
RECRUITINGIrvine, California, 92697, United States
-
University of Cincinnati Medical Center
RECRUITINGCincinnati, Ohio, 45219, United States
-
University of Pennsylvania Perelman Center for Advanced Medicine
RECRUITINGPhiladelphia, Pennsylvania, 19104, United States
-
University of Pittsburgh
RECRUITINGPittsburgh, Pennsylvania, 15219, United States
-
University of Pécs
NOT_YET_RECRUITINGPécs, 7622, Hungary
-
University of Szeged, Szent-Györgyi Albert Clinical Center
NOT_YET_RECRUITINGSzeged, 6722, Hungary
-
University of Utah
RECRUITINGSalt Lake City, Utah, 84108, United States
-
Universitätsklinikum Gießen und Marburg GmhH
RECRUITINGMarburg, 35043, Germany
-
Washington University School of Medicine
RECRUITINGSt Louis, Missouri, 63110, United States
-
Wolfson Children's Hospital
RECRUITINGJacksonville, Florida, 32207, United States
-
entrum Medyczne Medyk
NOT_YET_RECRUITINGRzeszów, 35-055, Poland
More trials for these conditions
Other studies related to the condition(s) this trial covers.
- Can an oral pill boost muscle strength in pompe disease?
- Pompe disease may raise risk of brain aneurysms, new study investigates
- Hope for pompe patients: could a switch in enzyme therapy slow decline?
- Can early enzyme therapy help babies with pompe disease breathe on their own?
- Pompe disease: new study probes hidden nerve damage behind breathing problems
- Heart condition costs under the microscope in massive hospital study