GLUT1-DS Italian registry: past, present, and future: a useful tool for rare disorders.

ABSTRACT: GLUT1 deficiency syndrome is a rare, genetically determined neurological disorder for which Ketogenic Dietary Treatment represents the gold standard and lifelong treatment. Patient registries are powerful tools providing insights and real-world data on rare diseases. To describe the implementation of a national web-based registry for GLUT1-DS. This is a retrospective and prospective, multicenter, observational registry developed in collaboration with the Italian GLUT1-DS association and based on an innovative, flexible and configurable cloud computing technology platform, structured according to the most rigorous requirements for the management of patient's sensitive data. The Glut1 Registry collects baseline and follow-up data on the patient's demographics, history, symptoms, genotype, cl

SUBMITTER: Varesio C 

PROVIDER: S-EPMC10029278 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature