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13-1300B First Descriptive Analysis Of Galactosemia International Registry Data

M Estela Rubio-Gozalbo, MD, PhD

Within the galactosemia network (www.galactosemianetwork.org) , a web-based international patient Registry has been developed and implemented according to the standards set by the European Platform on Rare Diseases Registration. The registry build-up is similar to the RedCap registry developed for galactosemia in the USA. Aims of the registries are to delineate the clinical history of patients, to provide information on many different aspects of the galactosemias, to help generate new hypotheses based on a large dataset of patients, and ultimately to serve as a platform for clinical trials. A first analysis performed with data from 25 centers in Europe and USA will be presented.