Last November, promoted by the Spanish Association, a scientific meeting was held in Madrid focusing on updates in the treatment of Tuberous Sclerosis Complex (TSC), a rare genetic disorder affecting multiple organs and carrying a significant neurological burden, particularly in the form of epilepsy and neurodevelopmental disorders. The meeting brought together specialized healthcare professionals to discuss the most relevant therapeutic advances and the current precision medicine approach in this condition.
Throughout the meeting, a comprehensive review of the clinical management of TSC was presented, with special emphasis on neurological manifestations, which affect the majority of patients. Epilepsy — present in up to 90% of cases and typically with early onset — was one of the central themes of the program, given its close relationship with cognitive and behavioral outcomes.
The scientific program included updates on pharmacological treatments, highlighting the role of vigabatrin in early and preventive therapy, mTOR inhibitors such as everolimus, and new options for refractory epilepsy, including our ongoing clinical trial with cannabinoids, Spectrum. Emerging therapies, dietary strategies such as the ketogenic diet, and surgical options in selected cases were also discussed.
One of the key messages of the meeting was the importance of early diagnosis and neurophysiological monitoring prior to the onset of clinical seizures — a strategy that has been shown to modify the natural history of epilepsy and improve neurological development in some pediatric patients.
The meeting featured leading specialists in neurology and epilepsy and was aimed at neurologists, pediatric neurologists, and other healthcare professionals involved in the multidisciplinary management of TSC. It provided a valuable forum for updates, knowledge exchange, and reflection on the current and future challenges in the treatment of this complex disease.
