RegistryNXT!: Enhanced Data Collection and Reporting for the Pompe Registry

Abstract

Introduction: For rare diseases such as the lysosomal storage disorders (LSDs), full appreciation of the disease spectrum is possible only through international disease registries. However, these unique patient populations and the need for long-term follow-up can create scientific and technological challenges in the collection of longitudinal, voluntary, retrospective data. The LSD Registries program, supported by Genzyme Corporation, includes international registries for Gaucher, Fabry, MPS I, and Pompe diseases (initiated in 1991, 2002, 2003, and 2004, respectively). The Pompe Registry has more than 850 patients enrolled, with more than 150 physicians from 29 countries participating. Patients may enroll without regard to age or treatment status, and patients represent the clinical sign and symptom profile of the entire disease spectrum. Thus, the data collection and reporting systems are critical to the Registry’s success. Within the last decade, the LSD registries have transitioned from paper case report forms to electronic data collection. Now, a multi-year, multi-registry technology and design initiative, known as RegistryNXT!, is underway. Description: RegistryNXT! has completed a multi-registry planning phase, as well as the reporting requirements and system design for the Gaucher Registry. A build phase is underway; launch of the Gaucher Registry’s RegistryNXT! system is planned for late 2010. The Pompe Registry’s system is scheduled to follow the Gaucher launch, with a targeted release in late 2011. Results: Registry participants require more immediate access to patient data and more flexible, easy-to-use reporting tools. These needs will be met by RegistryNXT!. New features, such as interactive patient case reports, will enable near real-time disease management support or the option to share reports with other members of the healthcare team or patients. RegistryNXT! will also support more rapid analyses of aggregate registry data for research. Conclusion: With the roll-out of RegistryNXT!, clinicians and other healthcare professionals who care for patients with Pompe disease and other LSDs will have the ability to improve their data collection capabilities, and may more easily identify trends in patient outcomes, improve scientific knowledge of these rare diseases, and build awareness of lysosomal storage disorders in the global community.