International Niemann-Pick Disease Registry (INPDR)

The International Niemann-Pick Disease Registry (INPDR) is a non-profit subsidiary company of the International Niemann-Pick Disease Alliance (INPDA) set up solely to maintain the Registry, to hold the Intellectual Property (IP) and to introduce a stable structure that will support the on-going development and sustainability of this much-needed and valuable resource. The Registry is a collection of secure web-based databases created by a consortium of patient organisations and professionals with support from the Europan Union. It refers to a system for collecting and maintaining, in a structures record, anonymised data on individuals diagnosed with Niemann-Pick Disease (NPD). The purpose of the Registry is to develop and sustain a unique patient-led database that supports research and therapy development, and improves care and treatment for NPD patient through global collaboration. The overall aims and objectives of the INPDR are: - To establish the natural history of NPC and ASMD (their characteristics, management and outcomes). - To assess standards of diagnosis and care of Niemann-Pick Disease patients. - To provide an inventory of patients for recruitment to interventional studies and post market surveillance. - To establish genotype-phenotype correlations. - To provide support for equal access to biochemical and genetic testing, education of health professionals, and empowerment of patients. - To provide a regulatory compliant registry to satisfy post-marketing obligation. - To provide fast and consistent global data-sharing.