Pompe Disease clinical trials at UC Irvine

This is a global, multicenter, prospective, observational registry of patients with Pompe disease, including those with late-onset pompe disease (LOPD) and infantile-onset pompe disease (IOPD). Both untreated patients and those being treated with an approved therapy for Pompe disease are eligible to participate. The objectives of the registry are: - To evaluate the long-term safety of Pompe disease treatments through collection of data that describe the frequency of adverse events (AEs)/serious adverse events (SAEs) occurring in Pompe disease patients - To evaluate the long-term real-world effectiveness of Pompe disease treatments - To evaluate the long-term real-world impact of Pompe disease treatments on quality of life (QOL) and patient-reported outcomes (PROs) - To describe the natural history of untreated Pompe disease

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.