Bridging Gaps in Understanding and Treating KCNT1 Epilepsy: Insights from a Patient Registry and EMR Study
Abstract number :
2.39
Submission category :
7. Anti-seizure Medications / 7C. Cohort Studies
Year :
2024
Submission ID :
621
Source :
www.aesnet.org
Presentation date :
12/8/2024 12:00:00 AM
Published date :
Authors :
Sarah Poliquin, PhD – COMBINEDBrain
Danielle Boyce, PhD – Tufts University
Sarah Drislane, MS – KCNT1 Epilepsy Foundation
Justin West, MD – KCNT1 Epilepsy Foundation
Presenting Author: David Bearden, MD MSCE – University of Rochester
Rationale:
Mutations in KCNT1, encoding the potassium channel KCa4.1, are associated with intractable epilepsy and severe developmental delay. As this rare disease is understudied and has no disease-modifying treatments, the KCNT1 Epilepsy Foundation (KEF) - a patient advocacy group - has taken a leading role in driving KCNT1 research, enrolling a patient registry, and promoting the patient/caregiver voice. Patient registries collect data internationally, and when combined with EMR data, can provide insights into how a disease affects a patient and their family, and amplify the patient/caregiver voice to the scientific community, which in turn informs design of future clinical trials.Methods:
The KEF registry was based on the LunaDNA platform, a participant-controlled database. Patients and caregivers were recruited via https://kcnt1epilepsy.org/, https://diseaseinfosearch.org/, social media and email. Participants were surveyed on demographics (n=71), medication history (n=35), Children’s Sleep Habits Questionnaire (n=20), PedsQL2.0 Family Impact Scale (n=48), PedsQL 1-12 months (n=20), PedsQL 13-24 months (n=20), and Willingness to Participate in Clinical Trials (n=31). Additional patient data was obtained through the Ciitizen EMR database. Data analysis was done in SPSS version 29, PowerBI and Excel. Results:
The registry included 215 participants from 48 countries (46% female, 32% non-USA), and Ciitizen included 41 participants from the US (44% female). Of the 20 unique KCNT1 variants reported, 9 are new to the literature, including 6 not found in ClinVar. The medication survey reveals that patients have a high medication burden, taking an average of 5 anti-seizure medications daily. Seizure rescue medications included benzodiazepines, phenobarbital, and levetiracetam, and 9/35 (25%) report using these at least once per week. Respiratory infections and secretion management emerged as common concerns. The mean number of major therapeutic procedures per patient was 5, including insertion of gastrostomy/nasogastric tubes, injection of botulinum toxin, and insertion of vagal nerve stimulator. The most impacted domains of family quality of life were family relationships and caregiver cognitive functioning. Caregivers were also surveyed about their willingness to participate in clinical trials: 14/31 respondents said they would tolerate a small risk of death from the experimental treatment. Common concerns were potential risk/benefit ratio, symptoms addressed by the treatment, and available treatment information.Conclusions:
The KEF international patient registry contains individuals not published in the scientific literature and shares a new perspective on patient experience. Caregiver surveys report high motivation to participate in clinical trials due to - and EMR data confirms - frequent hospitalizations, invasive medical procedures, and high mortality. The KEF also collects patient samples, including postmortem tissue, and continues to survey patients to facilitate research for much-needed treatments.Funding: N/A
Anti-seizure Medications