Summary

Location
at Irvine, California and other locations
Dates
study started
estimated completion

Description

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.

Official Title

Pompe Disease Registry

Details

Study Design Time Perspective: Retrospective and Prospective

Keywords

Glycogen Storage Disease Type II Pompe Disease Glycogen Storage Disease Type II (GSD-II) GSD-II Pompe Disease (late-onset) Acid Maltase Deficiency Disease Glycogenosis II Glycogen Storage Disease Disease

Eligibility

You can join if…

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.

You CAN'T join if...

There are no exclusion criteria in this Registry

Locations

  • University of California at Irvine-Site Number:840036 accepting new patients
    Irvine California 00000 United States
  • Children's Hospital of Orange County-Site Number:840074 accepting new patients
    Orange California 92868 United States

Details

Status
accepting new patients
Start Date
Completion Date
(estimated)
Sponsor
Genzyme, a Sanofi Company
ID
NCT00231400
Study Type
Observational [Patient Registry]
Participants
Expecting 2000 study participants
Last Updated