Genetic diagnosis and personalized medicine for epilepsy patients
Characterization of Patients With Epilepsy With an Integrated Approach of Clinical, Neurophysiological, Neuroradiological, Neuropsychological and Laboratory (Exome) Methods for Personalized Medicine
This study is testing if looking at the genes of people with epilepsy can help doctors find better, personalized treatments for them.
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 500 (estimated) |
| Sex | All |
| Sponsor | Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico Academic / other |
| Locations | 1 site (Milan) |
| Trial ID | NCT06321822 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates include both minors and adults diagnosed with epilepsy who are being followed at the participating epilepsy clinics.
Not a fit: Patients with epilepsy who do not have available DNA samples from themselves and both parents may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to more accurate diagnoses and personalized treatment plans for patients with epilepsy.
How similar studies have performed: Other studies utilizing genetic sequencing for epilepsy have shown promise, indicating that this approach could be beneficial.
Eligibility criteria
Show full inclusion / exclusion criteria
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 this trial is running
Milan
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.