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 commit
| Condition(s) | Glycogen Storage Disease Type II, Pompe Disease |
|---|---|
| Status | Recruiting |
| Study type | Observational |
| 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 |
| Who can participate | 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 |
| Sex | All |
| Lead sponsor | Genzyme, a Sanofi Company |
| Locations | Birmingham, Alabama, United States; Phoenix, Arizona, United States; Phoenix, Arizona, United States; Tucson, Arizona, United States; Little Rock, Arkansas, United States; Little Rock, Arkansas, United States (+266 more sites) |
| Start date | 2004-09-15 |
| NCT ID | NCT00231400 |
| Official listing | https://clinicaltrials.gov/study/NCT00231400 |