GLUT1-DS Italian registry: past, present, and future: a useful tool for rare disorders.
Costanza VaresioValentina De GiorgisPierangelo VeggiottiNardo NardocciTiziana GranataFrancesca RagonaLudovica PascaMartina Maria MensiRenato BorgattiSara OlivottoRoberto PrevitaliAntonella RivaMaria Margherita MancardiPasquale StrianoMara CavallinRenzo GuerriniFrancesca Felicia OpertoAlice PizzolatoRuggero Di MauloFabiola MartinoAndrea LodiCarla MariniPublished in: Orphanet journal of rare diseases (2023)
We describe the principles behind the design, development, and deployment of the web-based nationwide GLUT1-DS registry. It represents a stepping stone towards a more comprehensive understanding of the disease from onset to adulthood. It also represents a virtuous model from a technical, legal, and organizational point of view, thus representing a possible paradigmatic example for other rare disease registry implementation.