Recruiting

Observational Study

Sponsor:

Amicus Therapeutics

Code:

NCT06121011

Conditions

Pompe Disease

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Interventions

Cipaglucosidase alfa

Miglustat

Alglucosidase alfa or Avalglucosidase alfa

Untreated

Study Details

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

Conditions

Pompe Disease

Study ID

NCT06121011

Start date

Feb 16, 2024

Status verified date

Mar, 2026

Completion date

Dec 20, 2034

Anticipated

Primary completion date

Dec 20, 2034

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

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)

Study Design

Enrollment

500 participants

Anticipated

Interventions and Outcome Measures

Arms

Cipaglucosidase alfa/Miglustat-treated patients

Other Enyzme Replacement Therapy (ERT)-treated patients

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

Interventions

Cipaglucosidase alfa

Enzyme Replacement Therapy (ERT) via intravenous infusion

Miglustat

Participants received ATB200 co-administered with AT2221 (Miglustat)

Alglucosidase alfa or Avalglucosidase alfa

Patients prescribed other commercially available ERT after local regulatory approval

Untreated

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

Primary outcome measure

  • Evaluate long-term safety of Pompe disease treatments [ Time Frame: 5 years ]

Central Contacts and Locations

Central contacts

For Site

609-662-2000patientadvocacy@amicusrx.com

For Patient

609-662-2000patientadvocacy@amicusrx.com

Locations

University of Arkansas Medical Science

Recruiting

Little Rock, Arkansas, United States, 72205

University of California Irvine

Recruiting

Irvine, California, United States, 92697

Wolfson Children's Hospital

Recruiting

Jacksonville, Florida, United States, 32207

Emory University

Recruiting

Atlanta, Georgia, United States, 30322

Indiana University, IU Health Physicians Neurology

Recruiting

Indianapolis, Indiana, United States, 46202

Washington University School of Medicine

Recruiting

St Louis, Missouri, United States, 63110

NYU Neurogenetics, NYU Langone Medical Center

Recruiting

New York, New York, United States, 10017

Duke University Medical Center

Recruiting

Durham, North Carolina, United States, 27710

University of Cincinnati Medical Center

Recruiting

Cincinnati, Ohio, United States, 45219

Cincinnati Children's Hospital

Recruiting

Cincinnati, Ohio, United States, 45229

University of Pennsylvania Perelman Center for Advanced Medicine

Recruiting

Philadelphia, Pennsylvania, United States, 19104

University of Pittsburgh

Recruiting

Pittsburgh, Pennsylvania, United States, 15219

UPMC Children's Hospital of Pittsburgh

Recruiting

Pittsburgh, Pennsylvania, United States, 15224

University of Utah

Recruiting

Salt Lake City, Utah, United States, 84108

Lysosomal and Rare Disorders Research and Treatment Center, Inc.

Recruiting

Fairfax, Virginia, United States, 22030

More Information

Sponsor

Amicus Therapeutics

Last update posted

Mar 10, 2026

Last verified

Mar, 2026

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-09. This information was provided to ClinicalTrials.gov by Amicus Therapeutics on 2026-03-10.