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

Area of Science:

• Neurology
• Genetics
• Rare Diseases

Background:

• Glucose Transporter 1 Deficiency Syndrome (GLUT1-DS) is a rare genetic neurological disorder.
• Ketogenic Dietary Treatment (KDT) is the established lifelong therapy for GLUT1-DS.
• Patient registries are vital for gathering real-world data on rare diseases.

Purpose of the Study:

• To detail the creation and implementation of a national, web-based registry for GLUT1-DS in Italy.
• To establish a secure and efficient platform for collecting comprehensive patient data.

Main Methods:

• A retrospective and prospective, multicenter, observational registry was developed.
• The registry utilizes a cloud-based technology platform adhering to strict data privacy regulations.
• Data collected include demographics, medical history, symptoms, genotype, clinical evaluations, and therapies.

Main Results:

• Five Italian centers have joined the registry, with two more in the process of joining.
• In the first two years, data from 67 patients (40 female, 27 male) were collected.
• Most patients experienced symptom onset within the first year of life, with diagnosis in infancy for 51%. Seizures and movement disorders were common initial symptoms. 79% of patients are on KDT.

Conclusions:

• The registry's design, development, and deployment are described, highlighting its technical, legal, and organizational strengths.
• This initiative advances the understanding of GLUT1-DS from onset through adulthood.
• The registry serves as a model for implementing similar rare disease registries.