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A Natural History Study of Participants With Potassium Sodium-Activated Channel Subfamily T Member 1 (KCNT1)-Related Epilepsy
Recruiting
Trial ID: NCT04924153
Purpose
The primary objective of the study is to characterize seizures in participants with
KCNT1-related epilepsy. The secondary objectives are to characterize head growth, symptom
severity, neurocognitive and social functions, adaptive behavior, sleep, quality of life,
caregiver burden, and mood in participants with KCNT1-related epilepsy.
Official Title
A Non-Drug, Longitudinal, Prospective Natural History Study of Individuals With KCNT1-Related Epilepsy (K1Te)
Stanford Investigator(s)
Viet Nguyen, MD
Clinical Associate Professor, Neurology & Neurological Sciences
Eligibility
Key Inclusion Criteria:
- Must have clinically and genetically confirmed diagnosis of KCNT1-related epilepsy
provided by the investigator. For purposes of this study, mutations that are
genetically confirmed to cause KCNT1-related epilepsy are defined to specifically
exclude known benign variants (e.g., distal C terminus, splice site, etc.).
- Willingness of the participant and/or the participant's legally authorized
representative (LAR) to comply with scheduled visits and study procedures.
Key Exclusion Criteria:
- Any condition that may interfere with the assessment of KCNT1-related epilepsy and
that is clearly not related to this disease (in the judgment of the investigator).
- History of human immunodeficiency virus infection.
- History of central nervous system (CNS) tumors or malignancies, including CNS
metastatic disease.
- Current enrollment or past enrollment in an interventional clinical study in which an
investigational gene therapy is/was administered.
- Enrollment in an interventional clinical study in which an investigational small
molecule, antibody or antisense oligonucleotide (ASO) treatment or approved small
molecule, antibody or ASO therapy for investigational use is administered within 1
month (or 5 half-lives of study agent, whichever is longer) prior to the screening
visit.
NOTE: Other protocol defined Inclusion/Exclusion criteria may apply.
Intervention(s):
other: No Intervention
Recruiting
Contact Information
Stanford University
School of Medicine
300 Pasteur Drive
Stanford,
CA
94305