A Global Prospective Observational Registry of Patients With Pompe Disease
- Conditions
- Pompe Disease
- Interventions
- Other: UntreatedBiological: Alglucosidase alfa or Avalglucosidase alfa
- Registration Number
- NCT06121011
- Lead Sponsor
- Amicus Therapeutics
- Brief Summary
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
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- RECRUITING
- Sex
- All
- Target Recruitment
- 500
- Diagnosis of LOPD or IOPD based on documented deficiency of GAA enzyme activity and/or GAA genotyping
- Patients who are currently receiving investigational therapy for Pompe disease in a clinical trial, a compassionate use program, or an expanded access program (EAP)
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Arm && Interventions
Group Intervention Description Cipaglucosidase alfa/Miglustat-treated patients Miglustat - Untreated patients (those who are not currently receiving any medical therapy for Pompe disease) Untreated - Other Enyzme Replacement Therapy (ERT)-treated patients Alglucosidase alfa or Avalglucosidase alfa - Cipaglucosidase alfa/Miglustat-treated patients Cipaglucosidase alfa -
- Primary Outcome Measures
Name Time Method Evaluate long-term safety of Pompe disease treatments 5 years Data collection that describe the frequency of AEs/SAEs occurring in Pompe disease patients
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (24)
Ruhr-Universität Bochum im St. Josef-Hospital
🇩🇪Bochum, Germany
SphinCS, Institute of Clinical Science in LSD
🇩🇪Hochheim, Germany
Universitätsklinikum Gießen und Marburg GmhH
🇩🇪Marburg, Germany
Queen Elizabeth Hospital Birmingham
🇬🇧Birmingham, United Kingdom
Cambridge University - Addenbrooke's Hospital
🇬🇧Cambridge, United Kingdom
National Hospital for Neurology and Neurosurgery
🇬🇧London, United Kingdom
Great Ormond Street Hospital NHS Foundation Trust
🇬🇧London, United Kingdom
Royal Free Hospital NHS Foundation Trust
🇬🇧Manchester, United Kingdom
Salford Royal NHS Foundation Trust
🇬🇧Salford, United Kingdom
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
🇺🇸Saint 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
Lysosomal and Rare Disorders Research and Treatment Center, Inc.
🇺🇸Fairfax, Virginia, United States
Laboratory for Muscle Diseases and Neuropathies
🇧🇪Leuven, Belgium