Investigating genetic causes of drug-resistant epilepsy in brain tissue
Dissecting mTOR Pathway Mosaicism in FCDII-Harbouring Epileptic Brain and Peripheral Tissue.
This study is testing if certain genetic changes in brain tissue from epilepsy surgery can help us understand and diagnose drug-resistant epilepsy in patients with focal cortical dysplasia.
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 60 (estimated) |
| Sex | All |
| Sponsor | King's College Hospital NHS Trust Academic / other |
| Locations | 1 site (London) |
| Trial ID | NCT06053671 on ClinicalTrials.gov |
What this trial studies
This study focuses on patients with focal cortical dysplasia (FCD), a leading cause of drug-resistant epilepsy. It aims to analyze brain tissue removed during epilepsy surgery to identify mutations in the mTOR pathway genes. Additionally, the study will explore whether these mutations can be detected in circulating free DNA from blood samples and nasal swabs. By employing single cell expression profiling, the researchers hope to uncover new genetic targets associated with FCD, ultimately leading to improved diagnostic and screening tools for epilepsy.
Who should consider this trial
Good fit: Ideal candidates include adults and children with a confirmed or suspected diagnosis of Focal Cortical Dysplasia Type IIA/B who are awaiting epilepsy surgery.
Not a fit: Patients with acute or chronic conditions that limit their ability to participate or those who refuse informed consent may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to the identification of new genetic causes of epilepsy, enhancing diagnostic capabilities and treatment options for patients.
How similar studies have performed: While the approach of investigating genetic mutations in epilepsy is gaining traction, this specific study's focus on mTOR pathway mutations in FCD is relatively novel.
Eligibility criteria
Show full inclusion / exclusion criteria
Epilepsy in Focal Cortical Dysplasia Type IIA/B Key Inclusion Criteria: 1. Adult and Paediatric Patients (male and female) 2. A histologically proven diagnosis of FCDIIA/B or a suspected diagnosis of FCDIIA/B (on MRI/EEG and PET grounds) awaiting resective Epilepsy surgery. 3. Able to attend appointment/hospital and undergo sampling of serum and nasal swab 4. Informed Consent Available Key Exclusion Criteria: 5. Any acute or chronic conditions that could limit the ability of the patient to participate in the study. 6. Refusal to give informed consent.
Where this trial is running
London
- King's College Hospital — London, United Kingdom (Recruiting)
Study contacts
- Study coordinator: Laura Mantoan Ritter, MD PhD
- Email: laura.mantoan@kcl.ac.uk
- Phone: 00442032999000
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.