Forschung & Innovation
Publikationen
Is ketogenic diet a 'precision medicine'? Recent developments and future challenges
PMU Autor*in
G. Kluger
Alle Autor*innen
R. Falsaperla, V. Sortino, P. Striano, G. Kluger, G. Ramantani, M. Ruggieri,
Fachzeitschrift
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
Kurzfassung
Recently, precision medicine has attracted much attention in the management of epilepsies, but it remains unclear if the increasingly utilized ketogenic diet approaches can truly be considered precision medicine in all epilepsy treatment. Currently, it is the standard treatment for patients with GLUT1 deficiency and the latest NICE guidelines highlight ketogenic diet as a therapeutic option for multi-drug resistant epilepsy patients. Ketogenic diet is presumed to be a precision medicine tool when applied to the treatment of seizures secondary to GLUT1 transporter deficiency. In contrast, the genetic and epigenetic mechanisms modulated by ketogenic diet and underlying its efficacy in other epilepsy types can only be hypothesized to relate to mechanisms of neuroprotection, neuromodulation, and reduction of neuroinflammation. Early ketogenic diet initiation in wellselected patients, would allow immediate action in the direction of neuroprotection and modulation of neuroinflammation, ensuring higher success rates and lower "cost" to the patient in terms of quality of life and comorbidities. These considerations have fueled an increasing interest in investigating the efficacy, side effects, and adherence to long-term use of the ketogenic diet in epilepsy treatment in large contemporary cohorts, available within the scope of multicentric collaborations, such as the European Network for Therapy in Rare Epilepsies (NETRE). Future directions should involve the use of precision medicine, applied to each patient with the help of "omics", whose use should be expanded and inclusive.
Keywords
Humans, BRAIN, MECHANISMS, CHILDREN, Treatment Outcome, EFFICACY, PRECISION MEDICINE, ADOLESCENTS, Quality of life, KETOGENIC DIET, DRUG-RESISTANT EPILEPSY, GLUT-1, Transcriptomic profile, CHILDHOOD EPILEPSY, GLUCOSE-TRANSPORT, Diet, Ketogenic/adverse effects, Neuroinflammatory Diseases, Monosaccharide Transport Proteins/deficiency, Glucose Transporter Type 1, Epilepsy/genetics, Carbohydrate Metabolism, Inborn Errors