SCN1A Horizons A Natural History Study of SCN1A-related Epilepsies in the United Kingdom

Last updated: July 15, 2024
Sponsor: NHS Greater Glasgow and Clyde
Overall Status: Active - Recruiting

Phase

N/A

Condition

Epilepsy

Dravet Syndrome

Seizure Disorders (Pediatric)

Treatment

N/A

Clinical Study ID

NCT06504511
GN20NE522P
316675
295069
  • All Genders

Study Summary

The aims of this prospective natural history study are to define the seizure, neuro-developmental, and behavioural characteristics of SCN1A-related epilepsies/Dravet 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.

Eligibility Criteria

Inclusion

Patients meeting the following inclusion criteria will be considered eligible for this study:

  1. Patient and/or legally authorised representative must be willing and able to giveinformed consent/assent for participation in the study.

  2. Patient and parent/caregiver are willing and able (in the Investigator's opinion) tocomply with all study requirements (including ability and willingness to comply withvirtual visits).

  3. Participant has a confirmed pathogenic (class 5) or likely pathogenic (class 4.SCN1A variant, as demonstrated by genetic testing.

Exclusion

Exclusion criteria:

Patient has any other significant disease or disorder which, in the opinion of the Investigator, may either put the patient at risk because of participation in the study, or may affect the patient's ability to participate in the study.

Study Design

Total Participants: 400
Study Start date:
November 20, 2023
Estimated Completion Date:
June 01, 2026

Study Description

Our aim is to define the seizure, neurodevelopmental, and behavioural characteristics of SCN1A-related epilepsies/Dravet 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 epilepsies/Dravet syndrome have been described, no large scale long-term, prospective studies of cognition and motor function have been conducted in SCN1A-related epilepsies/Dravet syndrome with established measures.

The SCN1A/Dravet 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 epilepsies/Dravet 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 and/or 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

Connect with a study center

  • Royal Hospital for Children

    Glasgow, G51 4TF
    United Kingdom

    Active - Recruiting

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