Pompe Disease Registry Protocol

Genzyme

Status: Enrolling

Conditions: Pompe Disease; Glycogen Storage Disease Type II

Study type: Observational

Funder types: Industry

Identifiers

NCT00231400

DIREGC07005

Details and patient eligibility

About

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.

Full description

Study Design Time Perspective: Retrospective and Prospective

Enrollment: 2,000 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

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