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NCT Number: NCT06121011

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

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Key information

Conditions

Pompe Disease Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Carbohydrate Metabolism, Inborn Errors Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Glycogen Storage Disease Glycogen Storage Disease Type II Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

Medizinische Universitaet Wien, Vienna, Austria

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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)

Treatment and study plan

Cipaglucosidase Alfa

Biological

Enzyme Replacement Therapy (ERT) via intravenous infusion

Other names: ATB200, Pombiliti

miglustat

Drug

Participants received ATB200 co-administered with AT2221 (Miglustat)

Other names: AT2221, Opfolda

Alglucosidase alfa or Avalglucosidase alfa

Biological

Patients prescribed other commercially available ERT after local regulatory approval

Other names: Myozyme, Lumizyme, Nexviazyme, Nexviadyme

Untreated

Other

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

Primary outcomes

Evaluate long-term safety of Pompe disease treatments

Time frame: 5 years

Data collection that describe the frequency of AEs/SAEs occurring in Pompe disease patients

Study contacts

Contact information is provided by the study sponsor or research team.

For Patient

CONTACT

[email protected]

609-662-2000

For Site

CONTACT

[email protected]

609-662-2000

Sponsors and collaborators

Lead sponsor

Amicus Therapeutics

Industry

Registry information

Important dates

Study start: 2024
Primary completion: 2034
Study completion: 2034
First posted: Nov 7, 2023
Registry last updated: Mar 10, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Recruiting