SLC6A1-NDD Prospective Longitudinal Natural History Study
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 60
- 试验地点
- 3
- 主要终点
- Seizure frequency by type (countable seizures per 28 days) by visit as compared to Baseline
研究概览
简要总结
The overall objective of this prospective longitudinal natural history study is to collect clinical data to characterize and evaluate the natural course of SLC6A1-NDD and assess the feasibility of certain assessments for the purpose of conducting future clinical studies in patients with this disease.
详细描述
GTEP01 is a noninterventional, multicenter, multinational, prospective longitudinal natural history study that will be conducted in different countries/languages to prepare for future international clinical studies.
The aim of this study is to characterize the natural course of SLC6A1-NDD through collecting clinical data longitudinally.
Approximately 60 patients with SLC6A1-NDD are planned to be enrolled within 2 age groups, a minimum of approximately 20 patients in each of the 2 age groups. The study consists of Enrollment and Baseline visits followed by 5 study visits over a 2-year Observational Period.
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
- — 至 17 Years（Child）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Patient with a diagnosis of SLC6A1-NDD characterized by epilepsy, global developmental delay, autism spectrum disorder, or intellectual disability, with a documented history of an SLC6A1 mutation, defined as pathogenic or likely pathogenic by the Investigator.
- •Patients should not be older than 17 years at time of assent/consent.
- •Patients under the age of 18 years with legal guardians providing informed consent. Assent will be obtained from any patients judged to have sufficient capacity to provide assent at the discretion of the Investigator.
- •Patient and patient's caregiver are willing and able to comply with study requirements (including diary completion and visit schedule).
排除标准
- •Patients and their caregivers are unable to complete follow-up visits.
- •Patients with a history of an alternate diagnosis for disease, including a genetic cause, which is known to contribute to epilepsy or NDD.
- •Patient is currently receiving an investigational product(s) other than 4-phenylbutyrate or has received an investigational product within 30 days or within <5 times the half-life of the investigational product, whichever is longer, prior to the Enrollment Visit.
研究组 & 干预措施
Age group 2 (6 to 17 years)
This age group consists of patients which are between 6 and 17 years at the time of study enrollment.
Age group 1 (< 6 years)
This age group consists of patients which are < 6 years at the time of study enrollment.
结局指标
主要结局
Seizure frequency by type (countable seizures per 28 days) by visit as compared to Baseline
时间窗: 2 years
Seizure free days per 28 days by visit as compared to Baseline
时间窗: 2 years
次要结局
- Number and proportion of tests completed by visit(2 years)
- Patient retention (dropout by visit and reason for dropout)(2 years)
- EEG over time: Number/proportion of tests completed by study patients by visit(2 years)