Ignite Creation Date:
2024-10-26 @ 3:40 PM
Last Modification Date:
2024-10-26 @ 3:40 PM
Study NCT ID:
NCT06602570
Status:
NOT_YET_RECRUITING
Last Update Posted:
None
First Post:
2024-09-17
Brief Title:
The Mosaic Brain a New Diagnostic Approach in Focal Epilepsies
Sponsor:
None
Organization:
None
Study Overview
Official Title:
The Mosaic Brain a New Diagnostic Approach in Focal Epilepsies
Status:
NOT_YET_RECRUITING
Status Verified Date:
2024-07
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
No
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
Overall this observational cohort study aims to
1 Improve our understanding of the genetic architecture of childhood focal epilepsies
2 Develop a liquid biopsy of cerebrospinal fluid CSF and assess feasibility to detect cerebral mosaicism using cell-free DNA cfDNA analysis and evaluate its performance against brain tissue on the panel testing
3 Develop a methodology to use trace tissue from Stereoelectroencephalography SEEG DNA and assess feasibility to detect cerebral mosaicism and evaluate its performance against brain tissue on the panel testing
3 Validate the use of the liquid biopsy and SEEG trace tissue for use in the English National Health Service clinical services and share with other Genomic Laboratory Hubs
1 Improve our understanding of the genetic architecture of childhood focal epilepsies
2 Develop a liquid biopsy of cerebrospinal fluid CSF and assess feasibility to detect cerebral mosaicism using cell-free DNA cfDNA analysis and evaluate its performance against brain tissue on the panel testing
3 Develop a methodology to use trace tissue from Stereoelectroencephalography SEEG DNA and assess feasibility to detect cerebral mosaicism and evaluate its performance against brain tissue on the panel testing
3 Validate the use of the liquid biopsy and SEEG trace tissue for use in the English National Health Service clinical services and share with other Genomic Laboratory Hubs
Detailed Description:
Epilepsy is characterised by recurrent epileptic seizures and is the most common brain disease affecting children significantly reducing their quality of life Understanding the cause of epilepsy is key as it can help doctors to identify the most effective treatment This is an urgent issue as 30 of all children with epilepsy do not respond to currently available treatments
In some children seizures can start in an area of abnormal brain structure which can be removed with epilepsy surgery
We see 150 children a year with epilepsy suspected to be caused by a brain lesion As part of their evaluation we do genetic testing in blood as we know that changes in their DNA mutations can cause epilepsy in 30-40 of children
It is now known that mutations are found in some areas of brain responsible for seizures but these are not present in the blood This is mosaicism when genetic variation affects only a subgroup of cells or tissues in an individual Understanding these genetic changes in the brain tissue will help us understand how epilepsy starts and may help us design new treatments Recently we designed a new genetic test to pick up these mosaic mutations in brain tissue However current methods to detect mosaicism require the use of brain tissue which limits testing to those children who qualify for surgery
To expand testing to more children without the need for surgery we want to focus our work in using alternative samples such as cell-free DNA cerebrospinal fluid CSF and trace-tissue DNA from trace cells collected from Stereoelectroencephalography SEEG electrodes
We aim to further our understanding of brain mosaicism in epilepsy using the current available tests as well as aim to increase access to testing by developing methods to use samples collected using less invasive and pre-surgical methods
In some children seizures can start in an area of abnormal brain structure which can be removed with epilepsy surgery
We see 150 children a year with epilepsy suspected to be caused by a brain lesion As part of their evaluation we do genetic testing in blood as we know that changes in their DNA mutations can cause epilepsy in 30-40 of children
It is now known that mutations are found in some areas of brain responsible for seizures but these are not present in the blood This is mosaicism when genetic variation affects only a subgroup of cells or tissues in an individual Understanding these genetic changes in the brain tissue will help us understand how epilepsy starts and may help us design new treatments Recently we designed a new genetic test to pick up these mosaic mutations in brain tissue However current methods to detect mosaicism require the use of brain tissue which limits testing to those children who qualify for surgery
To expand testing to more children without the need for surgery we want to focus our work in using alternative samples such as cell-free DNA cerebrospinal fluid CSF and trace-tissue DNA from trace cells collected from Stereoelectroencephalography SEEG electrodes
We aim to further our understanding of brain mosaicism in epilepsy using the current available tests as well as aim to increase access to testing by developing methods to use samples collected using less invasive and pre-surgical methods
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None