RecruitingNCT06121011

A Global Prospective Observational Registry of Patients With Pompe Disease


Sponsor

Amicus Therapeutics

Enrollment

500 participants

Start Date

Feb 16, 2024

Study Type

OBSERVATIONAL

Conditions

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


Eligibility

Inclusion Criteria1

  • Diagnosis of LOPD or IOPD based on documented deficiency of GAA enzyme activity and/or GAA genotyping

Exclusion Criteria1

  • Patients who are currently receiving investigational therapy for Pompe disease in a clinical trial, a compassionate use program, or an expanded access program (EAP)

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Interventions

BIOLOGICALCipaglucosidase alfa

Enzyme Replacement Therapy (ERT) via intravenous infusion

DRUGMiglustat

Participants received ATB200 co-administered with AT2221 (Miglustat)

BIOLOGICALAlglucosidase alfa or Avalglucosidase alfa

Patients prescribed other commercially available ERT after local regulatory approval

OTHERUntreated

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


Locations(41)

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

Universitätsklinikum Gießen und Marburg GmhH

Marburg, Germany

Universitat Munchen - Friedrich Baur Institut

München, Germany

Universitaetsklinikum Ulm

Ulm, Germany

Eginition Hospital

Athens, Greece

University of Pécs

Pécs, Hungary

University of Szeged, Szent-Györgyi Albert Clinical Center

Szeged, Hungary

Azienda Ospedaliero Universitaria Consorziale Policlinico di Bari

Bari, Italy

Centre of Expertise for muscular diseases and peripheral neuropathies European Reference Network for Rare Neuromuscular Diseases

Naples, Italy

Department of Neurosciences Rita Levi Montalcini, University of Torino

Torino, Italy

Regional Coordinating Centre for Rare Diseases, university Hospital of Udine, Udine, Italy

Udine, Italy

Dept of Pediatrics Erasmus MC - Sophia Children's Hospital

Rotterdam, Netherlands

entrum Medyczne Medyk

Rzeszów, Poland

University Medical Centre Ljubljana, Institute of Clinical Neurophysiology

Ljubljana, Slovenia

Queen Elizabeth Hospital Birmingham

Birmingham, United Kingdom

Cambridge University - Addenbrooke's Hospital

Cambridge, United Kingdom

University Hospital of Wales, Cardiff

Cardiff, United Kingdom

University Hospital of Wales

Cardiff, 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

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NCT06121011


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