Why it matters?
Sleep-related hypermotor epilepsy (SHE) is a genetic focal epilepsy consisting of vigorous nocturnal movements occurring in clusters over several days ,often separated by weeks, with severe sleep disturbance and daytime functional disturbance. SHE has relatively poor prognosis and response to conventional antiseizure medications (ASM). Mutations in nicotinic acetylcholine receptor (nAChR) subunits α4 (CHRNA4) and β2 (CHRNB2) cause an estimated 10% of cases. Although case reports suggest beneficial effects of transdermal nicotine (TN), a pilot study is required to plan a definitive clinical trial of its effectiveness. Specific gaps in our knowledge include the prevalence of nAChR mutations in SHE, whether nAChR mutations can be predicted through clinical features, the effect size of TN in SHE for seizure and sleep outcomes, and whether or not TN shows effect in nAChR mutation negative SHE participants.
What we are doing?
SHEENA is an observational pilot study with genetic testing. SHE participants will be offered daily 7mg TN patch adjunctive to their current anti-seizure medications (ASMs) after a three month baseline observation period. Symptom diaries are to be completed at baseline, then three months and six months with genetic counselling and gene panel testing offered at the start of the study. Eligible SHE participants will be over 12 years old and exhibit active epilepsy (≥1 seizure in the past 12 months) with no previous exposure to TN. Primary outcome is a change in the average monthly seizure frequency between baseline and TN periods; secondary outcomes include increased sleep quality, symptom burden and adverse effects; 20 participants will be recruited.
When will this study be recruiting?
We will recruit participants to SHEENA starting in winter 2021. A full list of recruiting centres can be found further down this page. In most cases you will need to already be a patient at a recruiting centre to participate. Please contact the Study Manager or talk to the team at your recruiting centre if you’re interested in participating.
What will participants be asked to do?
Keep a symptom and sleep diary. Apply a nicotine patch. Have a blood draw and genetic testing.
Who can take part?
Anyone who is currently over the age of 12 years old and has been diagnosed with Sleep Related Hypermotor Epilepsy.
Who is conducting the research?
Professor Deb Pal at King’s College London is the Chief Investigator of this study.
Who has reviewed this study?
This study is supported by Epilepsy Research UK and has been reviewed by Westminster Research Ethics Committee.
If you would like to find out more about this study, please contact Anna Hall (Anna.1.Hall@kcl.ac.uk) or Amber Collingwood (Amber.firstname.lastname@example.org) by email. We’re now recruiting at the following UK sites:
King’s College Hospital, London