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

Launched by NHS GREATER GLASGOW AND CLYDE · Jul 15, 2024

Keywords

ClinConnect Summary

The SCN1A Horizons study is looking at the characteristics of SCN1A-related epilepsies, including Dravet syndrome, in both children and adults over three years. The goal is to better understand the types of seizures, how they affect development and behavior, and how different genetic changes (known as genotypes) impact the frequency of seizures and overall development. This research will help us learn more about the condition and may lead to improved treatments in the future.

To participate, individuals must have a confirmed genetic change linked to SCN1A and be willing to provide consent. The study is open to anyone with this condition, regardless of age or gender. Participants will need to attend virtual visits and complete various assessments during the study. It’s important to note that individuals with other significant health issues may not be eligible to join. This study is currently recruiting participants, and it offers a chance to contribute to valuable research that could benefit many affected by SCN1A-related epilepsies.

Gender

ALL

Eligibility 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.