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Home | Strategic Areas and Transversal Programmes | | Epilepsy

NEUROLOGICAL DISEASES, NEUROSCIENCE & MENTAL HEALTH

Epilepsy

The Epilepsy Research Group is an emerging group, made up of researchers with a long history in research into epilepsy diseases, both in childhood and adults, with a common interest that is to delve into the pathophysiological bases of epilepsy, especially genetics, and in the management of seizures and associated comorbidities. Our research lines are aligned with the clinical activity carried out in our center, selected within the Catalan territory as a reference for Rare Epilepsies, thanks to the XUEC networks (Network of Clinical Expertise Units for Rare Epilepsies of Genetic and/or Structural Basis, and Network of Rare Diseases of Genetic Basis). In this way, we promote translational research that allows us to respond to the clinical needs of patients with epilepsy, both adults and pediatricians

Main research areas

  • Natural history of rare diseases that occur with epilepsy, especially those of genetic cause. Electroclinical phenotypy and neuroimaging of epileptic and developmental encephalopathies (EDS), with particular interest in: Dravet Syndrome, SYNGAP1, SLC6A1, Tuberous Sclerosis Complex.
  • Development of clinical trials of molecules in the treatment of drug-resistant epilepsy and EED. Personalised therapies in rare diseases such as epilepsy, drug repositioning.
  • Pharmacogenetics, health and ethnic determinants linked to response and tolerance to different antiseizure medications.
  • Neuropsychological and psychiatric comorbidities of epilepsy. Impact on personal, family and social development.
  • Status epilepticus and acute seizures: Urgent management, design of diagnostic strategies and tools for determining prognosis.
  • Quantitative analysis of the EEG signal, applied to different diseases of the central nervous system.

Currently active clinical trials

  • LP352-301/302/303 (Longboard Pharmaceutical). A Phase 3 randomized, double-blind, placebo-controlled, multi-center study to investigate the efficacy, safety, and tolerability of LP352 in the treatment of seizures in children and adults with Developmental and Epileptic Encephalopathies (DEE).
  • EPX-100-001/003 (Harmony Biosciences). A 20-Week Multicenter, Randomized, Double-Blind, Placebo-Controlled Trial of EPX-100 (Clemizole Hydrochloride) as Adjunctive Therapy in Children and Adult Participants with Dravet Syndrome (ARGUS Trial).
  • PRAX-628-212/321/323 (Praxis Precision Medicines). A Double-Blind, Randomized, Multicenter, Trial Evaluating the Efficacy and Safety of PRAX-628 in Adults with Focal Seizures.
  • EstuEla2022 (OILS4CURE S.L.). Efficacy of a CBD-enriched oil in the treatment of secondary refractory epileptic encephalopathy associated with tuberous sclerosis complex (TSC).
  • A phase III, randomized, double-blinded study of the efficacy and safety of LEvetiracetam to prevent Seizures in Symptomatic Alzheimer’s Disease in adults with Down syndrome (the LESS-AD trial). Promoter: Institut Recerca Sant Pau, IP Dra María Carmona, Unidad Memoria.
  • GWEP21042 (GW Pharma). A Prospective, Observational Cohort Study to Assess Long-Term Safety in Patients Prescribed Epidyolex® with a Focus on Drug-induced Liver Injury (DILI). A Prospective, Observational Cohort Study to Assess Long-Term Safety in Patients Prescribed Epidyolex® with a Focus on Drug-induced Liver Injury (DILI).
  • TAPESTRY ZX008-2101. A Registry of Patients Treated with Fintepla (Zogenix International, Ltd).

Challenges

  • Understand the genetic and pathophysiological bases of rare epilepsies and epileptic and developmental encephalopathies, with particular interest in: Dravet Syndrome, SYNGAP1, SLC6A1, Tuberous Sclerosis Complex.
  • Characterize clinical, electroencephalographic and neuroimaging phenotypes to improve the diagnosis and classification of epilepsies.
  • To develop personalized therapies and clinical trials in drug-resistant epilepsy and rare diseases.
    • To study the pharmacogenetics and health determinants that influence the response and tolerance to antiseizure medications.
  • To analyse neuropsychological and psychiatric comorbidities and their impact on quality of life.
  • To improve the approach to status epileptic and the development of diagnostic and prognostic tools.
  • To promote the applicability of quantitative EEG studies in the diagnosis of neurological disorders.
  • To promote translational research and multidisciplinary collaboration within the XUEC networks and other national and international initiatives.
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