Patient-Centered Outcomes in GLUT1DS

We are happy to share a new publication by Professor De Giorgis and her team of collaborators in Italy titled: “In search of what really matters: insights from a web-based survey on patient-centered outcomes in GLUT1DS.”

Professor De Giorgis kindly shared a summary of her publication which you can see below:

What really matters in GLUT1 Deficiency Syndrome?

In this study by the Italian research group led by Prof. De Giorgis, conducted in collaboration with patients and caregivers from the Italian GLUT1 Association, a survey was completed by both caregivers and individuals living with GLUT1 Deficiency Syndrome to better understand what truly impacts their daily lives.

The results show that movement disorders, learning and communication difficulties, sleep problems, and challenges with autonomy and social participation often have a major impact on quality of life – sometimes even more than seizures. While ketogenic dietary therapies can improve energy and memory, the day-to-day management of the condition, including school, work, and future independence, remains challenging for many individuals and families.

By listening directly to patients and caregivers, this work highlights the importance of patient-centered outcomes: looking beyond core symptoms to focus on well-being, daily functioning, and long-term needs. These insights can help shape more holistic care and guide future research and clinical trials in GLUT1 Deficiency Syndrome.
 
We thank Professor De Giorgis, her team, and all the collaborators for their interest in helping our community and for all the work and effort put into this study. Thank you for visiting our blog and please contact me at [email protected] if you have any questions.