The road toward patient-led research in the GLUT1 Deficiency community: a patient organization perspective

Abstract

Glucose transporter type 1 deficiency syndrome (GLUT1 Deficiency) is a rare epileptic encephalopathy first described in 1991. Impaired glucose transport leads to decreased glucose supply to the brain, resulting in an alteration of brain metabolism and function. Clinically, classical GLUT1 Deficiency is characterized by infantile-onset epilepsy, which is often drug resistant, movement disorders, intellectual disability, and speech and language disorders. There is a broad spectrum of symptoms and severity which may change over time. GLUT1 Deficiency is caused by pathogenic variants of the SLC2A1 gene that can be spontaneous or inherited in an autosomal dominant fashion, although a few cases of autosomal recessive transmission have also been reported. There is currently no cure for GLUT1 Deficiency; however, the recommended standard of care treatment is a medically supervised ketogenic dietary therapy, which helps improve some symptoms for some patients. The Glut1 Deficiency Foundation aimed to develop a strategic research plan centered on the needs and priorities of patients using a patient voice survey and gathering input from all stakeholders. The Collective Voices Survey content was developed through virtual focus group discussions and questionnaires with patients and families. We used learnings from our survey and our first scientific conference to assemble our strategic research plan, which we have called our Research Compass. The survey provided clarity and a more comprehensive representation of patient and family experiences. It also sheds light on their priorities for research, ideas around treatment development, and willingness to participate in clinical trials. Learnings from this survey, along with input from other stakeholders, helped us identify some of the research gaps in our disease field. These insights are incorporated into the Research Compass that is now guiding the scientific focus and priorities in our community and ensuring that patients are at the center of this effort.