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Clinical Trial: Application of Novel Diagnostic and Therapeutical Methods in Epilepsy and Neurodevelopmental Abnormalities in Children (EPIMARKER)

April 3, 2018

Brief Summary: Epilepsy affects 1% of the world’s population and 6 million people in Europe. The estimated total cost of €20 billion in Europe in 2014 makes epilepsy a significant socioeconomic burden. Despite great progress in the management of epilepsy and increasing numbers of antiepileptic drugs, 30-40% of epilepsy patients are refractory to all available medications. Moreover, in childhood epilepsy is a causative factor of psychiatric and behavioral comorbidities, including developmental delay and autism spectrum disorder. In spite of multiple trials no reliable biomarker of epilepsy development has been identified. There are no studies on biomarkers of drug-resistance or epilepsy recurrence after the drug withdrawal.

EPIMARKER is a first project, carried out in humans, which is going to examine in prospective way clinical, electroencephalographic and molecular biomarkers to produce an integrative tool useful in everyday diagnosis and treatment of epilepsy in children to prevent the development of drug-resistant epilepsy and its behavioral comorbidities as mental retardation and autism. The set of molecular biomarkers will be determined by quantitative transcriptomic and proteomic studies and validated in reprogrammed cellular models.

Actual Study Start Date: April 1, 2017
Estimated Primary Completion Date: March 30, 2020

Eligibility Criteria

Ages Eligible for Study: up to 16 Years (Child)
Sexes Eligible for Study: All
Accepts Healthy Volunteers: Yes

Inclusion Criteria WP1:

  • Male or female children with a definite diagnosis of TSC (Roach 1998)
  • Aged up to 4 years
  • Diagnosis of epilepsy established on the basis of clinical seizures or
  • Epileptiform changes on EEG within 1-7 days prior to baseline
  • Written informed consent of caregivers

 

Inclusion Criteria WP2:

  • Male or female children with a definite diagnosis of TSC (Roach criteria: Roach 1998) with epilepsy
  • Aged up to 16 years
  • Seizure free, in whom a decision to withdraw antiepileptic drugs was made
  • Written informed consent of caregivers