Natural history of SCN1A-related epilepsies in the UK
SCN1A Horizons A Natural History Study of SCN1A-related Epilepsies in the United Kingdom
This study looks at how SCN1A-related epilepsies, like Dravet syndrome, affect seizures and development in children and adults over three years to help find better treatments.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 400 (estimated) |
| Sex | All |
| Sponsor | NHS Greater Glasgow and Clyde Academic / other |
| Locations | 1 site (Glasgow) |
| Trial ID | NCT06504511 on ClinicalTrials.gov |
What this trial studies
This observational study aims to define the seizure, neurodevelopmental, and behavioral characteristics of SCN1A-related epilepsies, including Dravet syndrome, in both children and adults over a three-year period. It will longitudinally assess the frequency of convulsive seizures and neurodevelopmental outcomes while comparing different genetic variants. The study seeks to document disease progression and provide a foundation for exploring new treatment interventions to mitigate neurodevelopmental comorbidities associated with the condition.
Who should consider this trial
Good fit: Ideal candidates include individuals with a confirmed pathogenic or likely pathogenic SCN1A variant who are willing to participate in the study.
Not a fit: Patients with significant comorbidities that may affect their ability to participate or pose risks during the study may not benefit.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and management of SCN1A-related epilepsies, potentially enhancing treatment outcomes for patients.
How similar studies have performed: While there have been descriptions of neurodevelopmental decline in SCN1A-related epilepsies, this study represents a novel approach as no large-scale long-term prospective studies have been conducted in this area.
Eligibility criteria
Show full inclusion / exclusion criteria
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 give informed consent/assent for participation in the study. 2. Patient and parent/caregiver are willing and able (in the Investigator's opinion) to comply with all study requirements (including ability and willingness to comply with virtual visits). 3. Participant has a confirmed pathogenic (class 5) or likely pathogenic (class 4. SCN1A variant, as demonstrated by genetic testing. 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.
Where this trial is running
Glasgow
- Royal Hospital for Children — Glasgow, United Kingdom (Recruiting)
Study contacts
- Principal investigator: Andreas Brunklaus, MD PhD — NHS Greater Glasgow & Clyde
- Study coordinator: Kirsty Hendry, PhD
- Email: SCN1AHorizons@glasgow.ac.uk
- Phone: 0141 451 5888
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.