A Global Prospective Observational Registry of Patients With Pompe Disease

NCT ID: NCT06121011

Last Updated: 2025-12-22

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

500 participants

Study Classification

OBSERVATIONAL

Study Start Date

2024-02-16

Study Completion Date

2034-12-20

Brief Summary

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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

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Conditions

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Pompe Disease

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Cipaglucosidase alfa/Miglustat-treated patients

Cipaglucosidase alfa

Intervention Type BIOLOGICAL

Enzyme Replacement Therapy (ERT) via intravenous infusion

Miglustat

Intervention Type DRUG

Participants received ATB200 co-administered with AT2221 (Miglustat)

Other Enyzme Replacement Therapy (ERT)-treated patients

Alglucosidase alfa or Avalglucosidase alfa

Intervention Type BIOLOGICAL

Patients prescribed other commercially available ERT after local regulatory approval

Untreated patients (those who are not currently receiving any medical therapy for Pompe disease)

Untreated

Intervention Type OTHER

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

Interventions

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Cipaglucosidase alfa

Enzyme Replacement Therapy (ERT) via intravenous infusion

Intervention Type BIOLOGICAL

Miglustat

Participants received ATB200 co-administered with AT2221 (Miglustat)

Intervention Type DRUG

Alglucosidase alfa or Avalglucosidase alfa

Patients prescribed other commercially available ERT after local regulatory approval

Intervention Type BIOLOGICAL

Untreated

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

Intervention Type OTHER

Other Intervention Names

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ATB200, Pombiliti AT2221, Opfolda Myozyme, Lumizyme, Nexviazyme, Nexviadyme

Eligibility Criteria

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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)
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Amicus Therapeutics

INDUSTRY

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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University of Arkansas Medical Science

Little Rock, Arkansas, United States

Site Status RECRUITING

University of California Irvine

Irvine, California, United States

Site Status RECRUITING

Wolfson Children's Hospital

Jacksonville, Florida, United States

Site Status RECRUITING

Emory University

Atlanta, Georgia, United States

Site Status RECRUITING

Indiana University, IU Health Physicians Neurology

Indianapolis, Indiana, United States

Site Status RECRUITING

Washington University School of Medicine

St Louis, Missouri, United States

Site Status RECRUITING

NYU Neurogenetics, NYU Langone Medical Center

New York, New York, United States

Site Status RECRUITING

Duke University Medical Center

Durham, North Carolina, United States

Site Status RECRUITING

University of Cincinnati Medical Center

Cincinnati, Ohio, United States

Site Status RECRUITING

Cincinnati Children's Hospital

Cincinnati, Ohio, United States

Site Status RECRUITING

University of Pennsylvania Perelman Center for Advanced Medicine

Philadelphia, Pennsylvania, United States

Site Status RECRUITING

University of Pittsburgh

Pittsburgh, Pennsylvania, United States

Site Status RECRUITING

UPMC Children's Hospital of Pittsburgh

Pittsburgh, Pennsylvania, United States

Site Status RECRUITING

University of Utah

Salt Lake City, Utah, United States

Site Status NOT_YET_RECRUITING

Lysosomal and Rare Disorders Research and Treatment Center, Inc.

Fairfax, Virginia, United States

Site Status RECRUITING

Medizinische Universitaet Wien

Vienna, , Austria

Site Status NOT_YET_RECRUITING

Laboratory for Muscle Diseases and Neuropathies

Leuven, , Belgium

Site Status RECRUITING

Aarhus Universitets hospital

Aarhus C, , Denmark

Site Status RECRUITING

Ruhr-Universität Bochum im St. Josef-Hospital

Bochum, , Germany

Site Status RECRUITING

SphinCS, Institute of Clinical Science in LSD

Höchheim, , Germany

Site Status RECRUITING

Universitätsklinikum Gießen und Marburg GmhH

Marburg, , Germany

Site Status RECRUITING

Universitat Munchen - Friedrich Baur Institut

München, , Germany

Site Status NOT_YET_RECRUITING

Universitat Munchen - Friedrich Baur Institut

München, , Germany

Site Status RECRUITING

Universitaetsklinikum Ulm

Ulm, , Germany

Site Status NOT_YET_RECRUITING

Eginition Hospital

Athens, , Greece

Site Status NOT_YET_RECRUITING

University of Pécs

Pécs, , Hungary

Site Status NOT_YET_RECRUITING

University of Szeged, Szent-Györgyi Albert Clinical Center

Szeged, , Hungary

Site Status NOT_YET_RECRUITING

Azienda Ospedaliero Universitaria Consorziale Policlinico di Bari

Bari, , Italy

Site Status NOT_YET_RECRUITING

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

Napoli, , Italy

Site Status NOT_YET_RECRUITING

Department of Neurosciences Rita Levi Montalcini, University of Torino

Torino, , Italy

Site Status NOT_YET_RECRUITING

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

Udine, , Italy

Site Status NOT_YET_RECRUITING

Dept of Pediatrics Erasmus MC - Sophia Children's Hospital

Rotterdam, , Netherlands

Site Status NOT_YET_RECRUITING

entrum Medyczne Medyk

Rzeszów, , Poland

Site Status NOT_YET_RECRUITING

University Medical Centre Ljubljana, Institute of Clinical Neurophysiology

Ljubljana, , Slovenia

Site Status NOT_YET_RECRUITING

Queen Elizabeth Hospital Birmingham

Birmingham, , United Kingdom

Site Status RECRUITING

Cambridge University - Addenbrooke's Hospital

Cambridge, , United Kingdom

Site Status RECRUITING

University Hospital of Wales, Cardiff

Cardiff, , United Kingdom

Site Status NOT_YET_RECRUITING

University Hospital of Wales

Cardiff, , United Kingdom

Site Status RECRUITING

National Hospital for Neurology and Neurosurgery

London, , United Kingdom

Site Status RECRUITING

Great Ormond Street Hospital NHS Foundation Trust

London, , United Kingdom

Site Status RECRUITING

Royal Free Hospital NHS Foundation Trust

Manchester, , United Kingdom

Site Status RECRUITING

Salford Royal NHS Foundation Trust

Salford, , United Kingdom

Site Status RECRUITING

Countries

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United States Austria Belgium Denmark Germany Greece Hungary Italy Netherlands Poland Slovenia United Kingdom

Central Contacts

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For Site

Role: CONTACT

Phone: 609-662-2000

Email: [email protected]

For Patient

Role: CONTACT

Phone: 609-662-2000

Email: [email protected]

Other Identifiers

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POM-005

Identifier Type: -

Identifier Source: org_study_id