Pompe Disease Registry Protocol

Recruiting

• Conditions: Glycogen Storage Disease Type II; Pompe Disease

• Registration Number: NCT00231400
• Lead Sponsor: Genzyme, a Sanofi Company

Brief Summary

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.

Detailed Description

Study Design Time Perspective: Retrospective and Prospective

Study Timeline

• Study Start: 2004-09-15
• Study First Submitted: 2005-09-30
• Study First Submitted QC: 2005-09-30
• Study First Posted: 2005-10-04
• Status Verified: 2025-05
• Last Update Submitted: 2025-05-19
• Last Update Posted: 2025-05-21
• Primary Completion: 2034-01-31
• Study Completion: 2034-01-31

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 2000

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Understanding of the variability, progression , identification and natural history of the manifestations of Pompe disease	maximum 30 years

Trial Locations

Locations (275)

University Alabama at Birmingham- Site Number : 840106; 🇺🇸 Birmingham, Alabama, United States

Barrow Neurological Institute- Site Number : 840087; 🇺🇸 Phoenix, Arizona, United States

Phoenix Children's Hospital- Site Number : 840003; 🇺🇸 Phoenix, Arizona, United States

University of Arizona- Site Number : 840015; 🇺🇸 Tucson, Arizona, United States

Arkansas Childrens Hospital- Site Number : 840109; 🇺🇸 Little Rock, Arkansas, United States

University of Arkansas for Medical Sciences- Site Number : 840113; 🇺🇸 Little Rock, Arkansas, United States

University of California at Irvine- Site Number : 840036; 🇺🇸 Irvine, California, United States

Loma Linda University- Genetics- Site Number : 840070; 🇺🇸 Loma Linda, California, United States

Southern California Permanente Medical Group- Site Number : 840108; 🇺🇸 Los Angeles, California, United States

USC Health Sciences Center Dept of Genetics- Site Number : 840082; 🇺🇸 Los Angeles, California, United States

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