Genetic diagnosis and personalized medicine for epilepsy patients

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This study aims to investigate the genetic causes of epilepsy by collecting clinical and instrumental data from patients at their first outpatient visit and one year later. It focuses on patients diagnosed with epilepsy, utilizing whole exome sequencing (WES) to identify potential genetic mutations. The study will also analyze the relationship between genotype and phenotype to improve personalized treatment approaches. Data will be gathered from both patients and their parents to enhance the understanding of hereditary factors in epilepsy.

Why it matters

Who can join: the full rules

Inclusion Criteria:

Study population: patients with epilepsy.

Patients who meet all of the following criteria will be included:

* Patients both minors and adults diagnosed with epilepsy;
* of both sexes;
* followed at the pediatric and adult epilepsy and electroencephalography clinics of the U.O.C. Neurophysiopathology - IRCCS Ca' Granda Fondazione Ospedale Maggiore Policlinico;
* Informed consent of the patient if an adult and capable of providing consent independently or of the parents or legal guardians in the case of a minor/individual not capable of providing consent independently.

Inclusion criteria for exome candidate patients:

* Availability of DNA samples from the patient and both natural parents;
* Prediction of high positive genetic diagnosis Patients diagnosed with epilepsy will be recruited among those followed at the pediatric and adult epilepsy and electroencephalography clinics of the U.O.C. Neurophysiopathology - Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, after signing the consent.

Exclusion Criteria:

* Patients who possess at least one of the following criteria will be excluded:
* Patients arriving for evaluation with the initial suspicion of epilepsy who during the diagnostic work-up were found to be suffering from a different pathology;
* Patients who have refused consent to participate in the study.

Where it's running

• Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
  Milan, Italy Recruiting

Study contacts

• Principal investigator: Robertino Dilena, MD — Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
• Study coordinator: Federica Massacesi
• Email: federica.massacesi@policlinico.mi.it
• Phone: +390255032982

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.