Mos-FED (Mosaicism in Focal Epilepsy Cortical Dysplasia Tissue)
This study, called Mos-FED, is investigating Focal Cortical Dysplasia (FCD), a brain condition that often leads to severe, hard-to-treat epilepsy. Researchers believe FCD can be caused by tiny changes in brain cells called 'mTOR pathway genes'. They will examine brain tissue removed during epilepsy surgery to find these changes. They will also check if these changes can be found in blood and nasal samples, which could lead to simpler detection methods. The study also aims to discover new reasons for FCD by looking closely at individual brain cells. Ultimately, the goal is to find new ways to diagnose FCD and epilepsy, and to develop better treatments.
At a glance
What is this study about?
Focal Cortical Dysplasia (FCD) is a condition where a small part of the brain hasn't developed quite as it should. For people living with FCD, it often causes severe epilepsy, meaning they have seizures that are difficult to control even with medication. This study is trying to understand *why* this happens.
Researchers believe that tiny, often hidden, changes in our genes (the instructions inside our cells) might be the reason for FCD. Specifically, they are looking at a group of genes called the 'mTOR pathway genes'. They want to see if these gene changes are present in the brain tissue of people with FCD that has been removed during epilepsy surgery. The study also explores whether these gene changes can be found in a person's blood or in cells from their nose, which would make future testing much easier and less invasive.
By carefully examining brain cells and their genes, the researchers hope to uncover new causes of FCD and ultimately develop better ways to diagnose the condition. They also want to identify new targets for treatments, potentially leading to more effective medicines for people with FCD and drug-resistant epilepsy. The long-term goal is to work with patients and charities to explore future treatments that could target these gene changes.
Key takeaways
- This study investigates why FCD causes severe epilepsy.
- It checks for genetic changes in brain tissue, blood, and nasal samples.
- The goal is to find new ways to diagnose FCD and improve treatments.
- Participation involves providing blood and nasal samples, and using surgical tissue if applicable.
- It's open to both children and adults with FCD Type IIA/B.
- There are no new medicines or extra surgeries involved in this research.
Who may be eligible?
This study is looking for both children and adults who have been diagnosed with a specific type of Focal Cortical Dysplasia (FCD type IIA/B), or who are strongly suspected to have it based on brain scans and tests, and are planning to have epilepsy surgery.
You would need to be able to come to the hospital for appointments and be willing to provide blood and nasal samples. It's also important that you (or your parents/guardians if you are under 18) are able to understand the study information and give your full permission to take part.
You wouldn't be able to join if you have any other serious health conditions that might prevent you from taking part safely, or if you decide not to give your consent.
Could this study suit you?
Answer these quick questions to see if you may be eligible. This is a guide only — the research team makes the final call.
- Have I been diagnosed with FCD Type IIA/B or am I scheduled for epilepsy surgery for suspected FCD?
- Am I (or my child) able to travel to the hospital for appointments?
- Am I willing to provide a blood sample and have a nasal swab taken?
- Do I understand what the study involves and agree to take part?
What does participation involve?
If you decide to take part in this study, you will need to come to the hospital for appointments. During these visits, you will be asked to provide a small blood sample and a sample from inside your nose (using a soft brush, similar to a cotton swab). These samples will help researchers look for genetic changes. If you are having epilepsy surgery, a small piece of the brain tissue removed during your operation will also be used for research. There are no new medications to take as part of this study, and no extra follow-up appointments beyond your usual medical care. The study mainly involves collecting these samples around the time of your epilepsy assessment or surgery.
Potential risks and benefits
Locations (1)
- King's College HospitalVerified postcodeLondon, United Kingdom· Recruiting
Common questions
What is Focal Cortical Dysplasia (FCD)?
FCD is a condition where a small area of the brain hasn't formed correctly, which can often lead to seizures and epilepsy.
What is 'drug-resistant epilepsy'?
This means that seizures are very difficult to control, even with several different epilepsy medications.
Will I have to take new medicine or have extra surgery?
No, this study does not involve new medicines or additional surgery. It's about collecting samples like blood and nasal swabs, and using brain tissue that would already be removed if you have surgery.
What are 'mTOR pathway genes'?
These are specific genes (parts of your body's instruction manual) that are important for how cells grow and divide. Changes in these genes might be linked to FCD.
Will I get my test results from the study?
The study aims to find general patterns, and individual results from the research tests won't typically be shared with participants. However, the overall findings will contribute to medical knowledge.
How to find out more
Laura Mantoan Ritter, MD PhD
Always speak to your GP or specialist before deciding to take part in a study.
Interested in taking part?
Discussion
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