At a glance
- What the study gets you
- Access to the study treatment being tested
- Type of study
- Interventional (receives a drug or procedure)
- Time in hospital
- In-person visits at study sites — visit count not specified by the sponsor
- Drug or intervention
- Blood and nasal swab sampling (genetic)
- How long the study runs
- Study runs about 36 months (dates as stated)
- About the drug or intervention
- Blood and nasal swab sampling — genetic: Genetic screening of DNA samples (blood, mucosal swab, brain tissue) from 60-100 patients with histologically confirmed diagnosis of FCDIIA/B identified from Epilepsy Surgery Databases.
- Patient visit burden
- Not specified by the sponsor
- Type of study
- Testing a treatment
- Ages
- Not specified
- Who
- All
- Number of participants
- 60
- Started
- 2023-04-09
- Last checked
- 2024-10
Plain English Summary
What is this study?
- • Testing a new treatment for focal cortical dysplasia
- • NA - 60 participants
- • Focal cortical dysplasia (FCD) is a malformation of brain development, the most common cause of drug-resistant epilepsy and often caused by mutations in mammalian target of rapamycin (mTOR) pathway genes
Who can take part?
- • Adults
- • Diagnosed with focal cortical dysplasia
Where?
- • London - King's College Hospital
This is a simplified summary. Always discuss with your doctor before making any decisions.
About This Trial
Focal cortical dysplasia (FCD) is a malformation of brain development, the most common cause of drug-resistant epilepsy and often caused by mutations in mammalian target of rapamycin (mTOR) pathway genes. Patients with FCD develop drug-resistant seizures. This study will look at FCD tissue removed during epilepsy surgery and aims to detect mutations in mTOR pathway genes in brain cells. Secondly, the investigators will establish if evidence of mutations found in brain cells can also be detected as circulating free DNA (cfDNA) in blood. By looking at which genes are made into proteins in individual cells found in epilepsy surgical tissue (single cell expression profiling),the investigators will attempt to identify new genetic targets in FCD. The main outcome will be finding new causes of epilepsy with FCD and the development of new diagnostic and screening tools.
More detail
Primary Objectives: 1. To identify if somatic mosaicism for mTOR is present in resected tissue from patients with FCDIIA/B, and can be detected in DNA from patient's serum as circulating free DNA (cfDNA) or from nasal epithelial cells collected non-invasively by olfactory mucosal brush swab. 2. To establish if single cell expression profiling from resected fresh frozen tissue reveals novel FCD causing pathways and single cell RNA sequencing increases the yield of mTOR pathway variant detection. 3. To determine if phosphorylated upstream and downstream mTOR pathway components can be characterised by immunohistochemistry and Western blot as novel biomarkers of mTOR activation in human FCDII tissue. Secondary Objectives: To engage with patients, representatives and charitable organisations to assess feasibility and develop plan to set up a future trial of mTOR inhibitor treatment.
How this trial compares with your answers
Answer 2 more questions to improve match
What we know so far
Still need:
- • Tell us your age for better matching
- • Tell us your sex for better matching
Preliminary match based on your answers. Full eligibility requires on-site assessment including medical history, physical exam, and lab tests. This does not guarantee enrolment.
Eligibility at a Glance
Key info
- Age: Not specified
- Who can join: All genders
What the study is looking for
- ✓Adult and Paediatric Patients (male and female)
- ✓A histologically proven diagnosis of FCDIIA/B or a suspected diagnosis of FCDIIA/B (on MRI/EEG and PET grounds)...
- ✓Able to attend appointment/hospital and undergo sampling of serum and nasal swab
- ✓agreement to take part Available
Who cannot take part
- ✗Any acute or chronic conditions that could limit the ability of the patient to participate in the study.
- ✗Refusal to give agreement to take part.
See the full criteria
Where Is This Study? (1 UK site)
King's College Hospital
London, United Kingdom
How to Get in Touch
Laura Mantoan Ritter, MD PhD
Sponsor contactCONTACT
Sylvini Lalnunhlimi
Sponsor contactCONTACT