Clinical trial NCT04924153: A Natural History Study of Participants With Potassium Sodium-Activated Channel Subfamily T Member 1 (KCNT1)-Related Epilepsy
Official title: A Non-Drug, Longitudinal, Prospective Natural History Study of Individuals With KCNT1-Related Epilepsy (K1Te)
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: KCNT1-Related Epilepsy
Keywords: Epilepsy of Infancy with Migrating Focal Seizures (EIMFS)
Early-Onset Epileptic Encephalopathy (EOEE)
Sleep-Related Hypermotor Epilepsy (SHE)
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE)
Lead sponsor: Biogen
Sponsor class: INDUSTRY
Collaborators: name: David Bearden
name: University of Rochester
First posted: 2021-06-11
Enrollment: 35
Sex: ALL
Minimum age (years): 0
Maximum age (years): 50
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: The study population include participants with KCNT1-related epilepsy.

Brief summary: 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.


Eligibility criteria: 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.

Primary outcomes:
measure: Number of Seizures in Participants with KCNT1-Related Epilepsy, Assessed by Type
timeFrame: Up to Month 12
Secondary outcomes:
measure: Change from Baseline in Head Circumference
timeFrame: Up to Month 12
measure: Clinical Global Impression-Severity (CGI-S) Scale Scores
timeFrame: Up to Month 12
measure: Clinical Global Impression-Change (CGI-C) Scale Scores
timeFrame: Up to Month 12
measure: Participant-Specific Visual Analog Scale (VAS) for Most Concerning Symptoms Scores
timeFrame: Up to Month 12
measure: Vineland Adaptive Behavior Scales-Third Edition (Vineland-3) Composite Scores
timeFrame: Up to Month 12
measure: Vineland-3 Domain Scores
timeFrame: Up to Month 12
measure: Vineland-3 Subdomain Scores
timeFrame: Up to Month 12
measure: Assessment of Sleep Diary Features
timeFrame: Up to Month 12
measure: Number of Awakenings During Sleep
timeFrame: Up to Month 12
measure: Brief Infant Sleep Questionnaire-Revised (BISQ-R) Total Scores
timeFrame: Up to Month 12
measure: BISQ-R Subscale Scores
timeFrame: Up to Month 12
measure: Children's Sleep Habits Questionnaire (CSHQ) Total Scores
timeFrame: Up to Month 12
measure: CSHQ Subscale Scores
timeFrame: Up to Month 12
measure: Pittsburgh Sleep Quality Index (PSQI) Total Scores
timeFrame: Up to Month 12
measure: PSQI Subscale Scores
timeFrame: Up to Month 12
measure: Pediatric Quality of Life (PedsQL) Infant Scale Scores
timeFrame: Up to Month 12
measure: PedsQL Core Scale Scores
timeFrame: Up to Month 12
measure: PedsQL Family Impact Module Scores
timeFrame: Up to Month 12
measure: Child Behavior Checklist for Ages 1.5 to 5-Language Development Survey (CBCL/1.5-5-LDS) Score
timeFrame: Up to Month 12
measure: Child Behavior Checklist for Ages 6 to 18 (CBCL/6-18) Scores
timeFrame: Up to Month 12
measure: Adult Self-Report (ASR) Scores
timeFrame: Up to Month 12
measure: Screen for Child Anxiety Related Emotional Disorders (SCARED)-Parent About Child Version Score
timeFrame: Up to Month 12
measure: Screen for Adult Anxiety Related Disorders (SCAARED)-Adult Version Scores
timeFrame: Up to Month 12
measure: Questionnaire for Psychotic Experiences (QPE) Screening Version Scores
timeFrame: Up to Month 12
Other outcomes:
Locations:
city: Rochester
country: United States
facility: University of Rochester
state: New York
Study officials:
affiliation: Biogen
name: Medical Director
role: STUDY_DIRECTOR
References: