NCT04924153已完成不适用
A Non-Drug, Longitudinal, Prospective Natural History Study of Individuals With KCNT1-Related Epilepsy (K1Te)
适应症
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- Biogen
- 入组人数
- 35
- 试验地点
- 1
- 主要终点
- Number of Seizures in Participants with KCNT1-Related Epilepsy, Assessed by Type
研究概览
简要总结
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 0 Years 至 50 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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.
排除标准
- •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.
结局指标
主要结局
Number of Seizures in Participants with KCNT1-Related Epilepsy, Assessed by Type
时间窗: Up to Month 12
Frequency and type of seizures as recorded daily by participants (or their caregivers/observers) in an electronic seizure diary.
次要结局
- Vineland Adaptive Behavior Scales-Third Edition (Vineland-3) Composite Scores(Up to Month 12)
- Change from Baseline in Head Circumference(Up to Month 12)
- Clinical Global Impression-Change (CGI-C) Scale Scores(Up to Month 12)
- Participant-Specific Visual Analog Scale (VAS) for Most Concerning Symptoms Scores(Up to Month 12)
- Vineland-3 Domain Scores(Up to Month 12)
- Assessment of Sleep Diary Features(Up to Month 12)
- Number of Awakenings During Sleep(Up to Month 12)
- BISQ-R Subscale Scores(Up to Month 12)
- CSHQ Subscale Scores(Up to Month 12)
- Pittsburgh Sleep Quality Index (PSQI) Total Scores(Up to Month 12)
- PedsQL Family Impact Module Scores(Up to Month 12)
- Screen for Child Anxiety Related Emotional Disorders (SCARED)-Parent About Child Version Score(Up to Month 12)
- Clinical Global Impression-Severity (CGI-S) Scale Scores(Up to Month 12)
- PSQI Subscale Scores(Up to Month 12)
- PedsQL Core Scale Scores(Up to Month 12)
- Child Behavior Checklist for Ages 6 to 18 (CBCL/6-18) Scores(Up to Month 12)
- Vineland-3 Subdomain Scores(Up to Month 12)
- Brief Infant Sleep Questionnaire-Revised (BISQ-R) Total Scores(Up to Month 12)
- Children's Sleep Habits Questionnaire (CSHQ) Total Scores(Up to Month 12)
- Pediatric Quality of Life (PedsQL) Infant Scale Scores(Up to Month 12)
- Child Behavior Checklist for Ages 1.5 to 5-Language Development Survey (CBCL/1.5-5-LDS) Score(Up to Month 12)
- Adult Self-Report (ASR) Scores(Up to Month 12)
- Screen for Adult Anxiety Related Disorders (SCAARED)-Adult Version Scores(Up to Month 12)
- Questionnaire for Psychotic Experiences (QPE) Screening Version Scores(Up to Month 12)
研究者
研究点 (1)
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