Actively Recruiting

All Genders
NCT06504511

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

Led by NHS Greater Glasgow and Clyde · Updated on 2024-07-16

400

Participants Needed

1

Research Sites

132 weeks

Total Duration

On this page

AI-Summary

What this Trial Is About

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.

CONDITIONS

Official Title

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

Who Can Participate

All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • Patient or legally authorized representative must be willing and able to give informed consent or assent for study participation
  • Patient and parent/caregiver must be willing and able to comply with all study requirements, including virtual visits
  • Participant must have a confirmed pathogenic (class 5) or likely pathogenic (class 4) SCN1A variant shown by genetic testing
Not Eligible

You will not qualify if you...

  • Patient has any other significant disease or disorder that may put them at risk or affect their ability to participate in the study, as judged by the Investigator

AI-Screening

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Trial Site Locations

Total: 1 location

1

Royal Hospital for Children

Glasgow, United Kingdom, G51 4TF

Actively Recruiting

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Research Team

K

Kirsty Hendry, PhD

CONTACT

A

Andreas Brunklaus, MD PhD

CONTACT

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

0

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