The Glucose Transporter Type I Deficiency (G1D) Registry
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 471
- 试验地点
- 1
- 主要终点
- Symptom Severity
研究概览
简要总结
The purpose of this protocol is to create a registry for patients diagnosed with Glucose Transporter Type 1 Deficiency (G1D), or patients experiencing symptoms consistent with G1D but not yet diagnosed, to enter medical information for physicians and other health researchers to analyze to increase the understanding of G1D and any sub-diagnoses.
详细描述
This is a registry for patients diagnosed with G1D, or experiencing symptoms G1D but not yet diagnosed. The registry will be available online for patients to provide consent, register, enter data, and modify data as necessary. The registry will be programmed by programmers at UT Southwestern Medical Center. The registry will provide the opportunity for patients to enter a comprehensive medical history, from symptoms to lab results to medications and other treatment regimens.
This registry is entirely patient-driven; no medical records will be requested by the investigator, nor are visits with the investigator or any other research personnel required.
The registry database will be periodically "cleaned"; that is, records will be reviewed for duplication of entries and consistency of data. Many data validation checks are incorporated into the registry. Additional data clarification may be requested from users if users have chosen to provide an email address for contact.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Other
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Males and females
- •G1D diagnosis
- •Patients experiencing symptoms of G1D but who have not yet received a diagnosis
排除标准
- •Patients who are not experiencing any symptoms of G1D
结局指标
主要结局
Symptom Severity
时间窗: 5 years
It is hypothesized that symptom severity will correspond to the degree of biochemical dysfunction or mutation type (when available). A broad range of symptoms and severity ratings are collected both retrospectively and prospectively.
次要结局
未报告次要终点
研究者
Juan Pascual
Associate Professor, Director of the Rare Brain Disorders Program
University of Texas Southwestern Medical Center