Pompe Disease Registry Protocol

The Pompe Registry is a global, multicenter, international, longitudinal, observational, and voluntary program for patients with Pompe disease, designed to track the disease's natural history and outcomes in patients, both treated and not. Data from the Registry are also used to fulfill various global regulatory commitments, to support product development/reimbursement, and for other research and non-research related purposes.

The objectives of the Registry are:

* To enhance understanding of the variability, progression, identification, and natural history of Pompe disease, with the ultimate goal of better guiding and assessing therapeutic intervention. * To assist the Pompe medical community with the development of recommendations for monitoring patients, and to provide reports on patient outcomes, to optimize patient care. * To characterize the Pompe disease population. * To evaluate the long-term effectiveness of alglucosidase alfa.

Recruiting

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Key information

Conditions

Glycogen Storage Disease Type II 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 Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases Pompe Disease

Sex eligibility

All sexes

Study type

Observational

Primary location

Investigational Site Number : 152218, CABA, Buenos Aires, Argentina

About this study

Study Design Time Perspective: Retrospective and Prospective

Who can participate

Healthy volunteers accepted: No

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

Inclusion criteria

All patients with a confirmed diagnosis of Pompe disease who have signed the informed consent and authorization form(s) are eligible for inclusion. Confirmed diagnosis is defined as documented GAA enzyme deficiency from blood, skin, or muscle tissue and/or documentation of 2 GAA gene mutations.

Exclusion criteria

There are no exclusion criteria in this Registry

Treatment and study plan

Primary outcomes

Understanding of the variability, progression , identification and natural history of the manifestations of Pompe disease

Time frame: maximum 30 years

Study contacts

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

Pompe Registry HelpLine

CONTACT

617-591-5500

Trial Transparency email recommended (Toll free number for US & Canada)

CONTACT

[email protected]

800-633-1610 ext. option 6

Sponsors and collaborators

Lead sponsor

Genzyme, a Sanofi Company

Industry

Registry information

Official study title

Pompe Disease Registry

Important dates

Study start: 2004
Primary completion: 2034
Study completion: 2034
First posted: Oct 4, 2005
Registry last updated: Jun 23, 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.

Active, Not Recruiting