A Global Prospective Observational Registry of Patients With Pompe Disease

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

Study Overview

• Status: Recruiting
• Conditions: Pompe Disease
• Intervention / Treatment: Biological: Cipaglucosidase alfa; Drug: Miglustat; Biological: Alglucosidase alfa or Avalglucosidase alfa; Other: Untreated

• Study Type: Observational
• Enrollment (Estimated): 500

Contacts and Locations

• Study Contact: Name: For Site; Phone Number: 215-921-7600; Email: PompeSiteInfo@amicusrx.com
• Study Contact Backup: Name: For Patient; Phone Number: 215-921-7600; Email: patientadvocacy@amicusrx.com

Study Locations

• United States
  • Arkansas
    • Little Rock, Arkansas, United States, 72205
      • Not yet recruiting
      • University of Arkansas Medical Science
  • Georgia
    • Atlanta, Georgia, United States, 30322
      • Recruiting
      • Emory University
  • Indiana
    • Indianapolis, Indiana, United States, 46202
      • Recruiting
      • Indiana University, IU Health Physicians Neurology
  • New York
    • New York, New York, United States, 10017
      • Not yet recruiting
      • NYU Langone Medical Center
  • Ohio
    • Cincinnati, Ohio, United States, 45219
      • Not yet recruiting
      • University of Cincinnati Medical Center
  • Pennsylvania
    • Philadelphia, Pennsylvania, United States, 19104
      • Not yet recruiting
      • University of Pennsylvania Perelman Center for Advanced Medicine
  • Virginia
    • Fairfax, Virginia, United States, 22030
      • Recruiting
      • Lysosomal and Rare Disorders Research and Treatment Center, Inc.

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

The study population in this registry will consist of patients with a diagnosis of Pompe disease (LOPD or IOPD) based on documented deficiency of acid α-glucosidase (GAA) enzyme activity and/or GAA genotyping, regardless of time since diagnosis.

Description

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 Plan

How is the study designed?

Number of groups / cohorts

3

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Cipaglucosidase alfa/Miglustat-treated patients	Biological: Cipaglucosidase alfa; Enzyme Replacement Therapy (ERT) via intravenous infusion; Other Names: ATB200, Pombiliti; Drug: Miglustat; Participants received ATB200 co-administered with AT2221 (Miglustat); Other Names: AT2221, Opfolda
Other Enyzme Replacement Therapy (ERT)-treated patients	Biological: Alglucosidase alfa or Avalglucosidase alfa; Patients prescribed other commercially available ERT after local regulatory approval; Other Names: Myozyme, Lumizyme, Nexviazyme, Nexviadyme
Untreated patients (those who are not currently receiving any medical therapy for Pompe disease)	Other: Untreated; Patients who are not currently receiving any medical therapy for Pompe disease.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Evaluate long-term safety of Pompe disease treatments	Data collection that describe the frequency of AEs/SAEs occurring in Pompe disease patients	5 years

Collaborators and Investigators

• Sponsor: Amicus Therapeutics

Study record dates

Study Major Dates

• Study Start (Actual): February 16, 2024
• Primary Completion (Estimated): December 20, 2034
• Study Completion (Estimated): December 20, 2034

Study Registration Dates

• First Submitted: November 2, 2023
• First Submitted That Met QC Criteria: November 2, 2023
• First Posted (Actual): November 7, 2023

Study Record Updates

• Last Update Posted (Actual): April 17, 2024
• Last Update Submitted That Met QC Criteria: April 15, 2024
• Last Verified: April 1, 2024

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Lysosomal Storage Diseases, Nervous System; Glycogen Storage Disease; Glycogen Storage Disease Type II; Hypoglycemic Agents; Physiological Effects of Drugs; Molecular Mechanisms of Pharmacological Action; Anti-Infective Agents; Antiviral Agents; Enzyme Inhibitors; Anti-HIV Agents; Anti-Retroviral Agents; Glycoside Hydrolase Inhibitors; Miglustat
• Other Study ID Numbers: POM-005

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• product manufactured in and exported from the U.S.: No