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RECRUITINGOBSERVATIONAL

A Global Prospective Observational Registry of Patients With Pompe Disease

Important: This information is not medical advice. Talk to your doctor about whether a clinical trial is right for you.

About This Trial

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

Who May Be Eligible (Plain English)

Who May Qualify: - Diagnosis of LOPD or IOPD based on documented deficiency of GAA enzyme activity and/or GAA genotyping Who Should NOT Join This Trial: - Patients who are currently receiving investigational therapy for Pompe disease in a clinical trial, a compassionate use program, or an expanded access program (EAP) Always talk to your doctor about whether this trial is right for you.

Original Eligibility Criteria

View original clinical language
Inclusion Criteria: * Diagnosis of LOPD or IOPD based on documented deficiency of GAA enzyme activity and/or GAA genotyping Exclusion Criteria: * Patients who are currently receiving investigational therapy for Pompe disease in a clinical trial, a compassionate use program, or an expanded access program (EAP)

Treatments Being Tested

BIOLOGICAL

Cipaglucosidase alfa

Enzyme Replacement Therapy (ERT) via intravenous infusion

DRUG

Miglustat

Participants received ATB200 co-administered with AT2221 (Miglustat)

BIOLOGICAL

Alglucosidase alfa or Avalglucosidase alfa

Patients prescribed other commercially available ERT after local regulatory approval

OTHER

Untreated

Patients who are not currently receiving any medical therapy for Pompe disease.

Locations (20)

University of Arkansas Medical Science
Little Rock, Arkansas, United States
University of California Irvine
Irvine, California, United States
Wolfson Children's Hospital
Jacksonville, Florida, United States
Emory University
Atlanta, Georgia, United States
Indiana University, IU Health Physicians Neurology
Indianapolis, Indiana, United States
Washington University School of Medicine
St Louis, Missouri, United States
NYU Neurogenetics, NYU Langone Medical Center
New York, New York, United States
Duke University Medical Center
Durham, North Carolina, United States
University of Cincinnati Medical Center
Cincinnati, Ohio, United States
Cincinnati Children's Hospital
Cincinnati, Ohio, United States
University of Pennsylvania Perelman Center for Advanced Medicine
Philadelphia, Pennsylvania, United States
University of Pittsburgh
Pittsburgh, Pennsylvania, United States
UPMC Children's Hospital of Pittsburgh
Pittsburgh, Pennsylvania, United States
University of Utah
Salt Lake City, Utah, United States
Lysosomal and Rare Disorders Research and Treatment Center, Inc.
Fairfax, Virginia, United States
Medizinische Universitaet Wien
Vienna, Austria
Laboratory for Muscle Diseases and Neuropathies
Leuven, Belgium
Aarhus Universitets hospital
Aarhus C, Denmark
Ruhr-Universität Bochum im St. Josef-Hospital
Bochum, Germany
SphinCS, Institute of Clinical Science in LSD
Höchheim, Germany