Ignite Creation Date:
2024-10-26 @ 3:35 PM
Last Modification Date:
2024-10-26 @ 3:35 PM
Study NCT ID:
NCT06504511
Status:
RECRUITING
Last Update Posted:
None
First Post:
2024-06-04
Brief Title:
SCN1A Horizons A Natural History Study of SCN1A-related Epilepsies in the United Kingdom
Sponsor:
None
Organization:
None
Study Overview
Official Title:
SCN1A Horizons A Natural History Study of SCN1A-related Epilepsies in the United Kingdom
Status:
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:
The aims of this prospective natural history study are to define the seizure neuro-developmental and behavioural characteristics of SCN1A-related epilepsiesDravet syndrome in children and adults longitudinally over a period of three years In addition this study will compare missense and truncating genotypes in terms of i rates of change of countable convulsive seizures per month and ii neurodevelopmental outcome and trajectories
Detailed Description:
Our aim is to define the seizure neurodevelopmental and behavioural characteristics of SCN1A-related epilepsiesDravet syndrome in children and adults longitudinally over a period of three years In addition this study will compare missense and truncating genotypes in terms of i rates of change of countable convulsive seizures per month and ii rate of change in neurodevelopmental outcomes over time The investigators will therefore prospectively study the natural history of SCN1A-related epilepsies and Dravet syndrome in the UK In order to explore established and novel treatments including new medications it is important to not only document seizure frequency but also behaviour learning and motor function Treatment interventions are key to prevent the neurodevelopmental comorbidities of Dravet syndrome as such sensitive measures of disease progression and a clear prospective description of the natural history of the disease across the lifespan is required to know whether therapies are transformative
Although the decline in neurodevelopmental profile and motor function in patients with SCN1A-related epilepsiesDravet syndrome have been described no large scale long-term prospective studies of cognition and motor function have been conducted in SCN1A-related epilepsiesDravet syndrome with established measures
The SCN1ADravet syndrome natural history study will provide a platform to systematically collect longitudinal validated outcome measures for SCN1A variant-carrying patients across the UK The study will prospectively assess changes in cognition behaviour and quality of life as well as other co-morbidities
A number of important questions relating to the natural history of SCN1A-related epilepsiesDravet syndrome over the lifespan remain unanswered
It is not understood the precise neurodevelopmental profile and decline of individuals with SCN1A-related epilepsies over time and which factors might modify this
There are no reliable biomarkers that can inform disease severity or treatment planning
What impact does the underlying genotype have on the neurodevelopmental outcome
Do clinical features such as the occurrence of repeated episodes of status epilepticus andor contraindicated medication use worsen the neurodevelopmental outcome
What is the seizure burden across different ages and does treatment response change over the lifespan
There is a lack of understanding of the comorbidity profile that individuals with SCN1A-related epilepsies experience over the lifespan
More information is required on the socio-economic impact SCN1A-related epilepsies have on affected individuals families and society
Although the decline in neurodevelopmental profile and motor function in patients with SCN1A-related epilepsiesDravet syndrome have been described no large scale long-term prospective studies of cognition and motor function have been conducted in SCN1A-related epilepsiesDravet syndrome with established measures
The SCN1ADravet syndrome natural history study will provide a platform to systematically collect longitudinal validated outcome measures for SCN1A variant-carrying patients across the UK The study will prospectively assess changes in cognition behaviour and quality of life as well as other co-morbidities
A number of important questions relating to the natural history of SCN1A-related epilepsiesDravet syndrome over the lifespan remain unanswered
It is not understood the precise neurodevelopmental profile and decline of individuals with SCN1A-related epilepsies over time and which factors might modify this
There are no reliable biomarkers that can inform disease severity or treatment planning
What impact does the underlying genotype have on the neurodevelopmental outcome
Do clinical features such as the occurrence of repeated episodes of status epilepticus andor contraindicated medication use worsen the neurodevelopmental outcome
What is the seizure burden across different ages and does treatment response change over the lifespan
There is a lack of understanding of the comorbidity profile that individuals with SCN1A-related epilepsies experience over the lifespan
More information is required on the socio-economic impact SCN1A-related epilepsies have on affected individuals families and society
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