Clinical and Basic Investigations Into Congenital Disorders of Glycosylation
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 500
- 试验地点
- 23
- 主要终点
- Indicators of Disease Severity and Progression - degree of cognitive disability
研究概览
简要总结
The purpose of this research is to study the natural history of congenital disorders of glycosylation and its causes and treatments.
详细描述
The investigators are conducting a natural history study of patients with congenital disorders of glycosylation (CDG). The study will look into the progression of the disease amongst the participants and also look at the clinical symptoms and how they vary amongst different diseased population groups. The participants will be asked to fill out questionnaires either on their own or with a provider that will grade the severity of disease and document symptoms and diet. Participants will have an opportunity to submit blood, urine, and stool samples that will be tested for biomarkers for CDG.
Participants will also complete dietary food records, physical exams, CDG scores, and the PROMIS questionnaires to assess disease progression and severity.
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
- •Individuals with a genetically, enzymatically, or molecularly confirmed diagnosis of CDG or NGLY1 deficiency
排除标准
- 未提供
结局指标
主要结局
Indicators of Disease Severity and Progression - degree of cognitive disability
时间窗: Length of study, up to 5 years
Establish the prevalence and severity of specific morbid indicators of disease severity through use of the Nijmegen Progression CDG rating scale.
Indicators of Disease Severity and Progression - organ system involvement
时间窗: Length of study, up to 5 years
Establish the prevalence and severity of specific morbid indicators of disease severity through use of the Nijmegen Progression CDG rating scale.
Indicators of Disease Severity and Progression - case-fatality
时间窗: Length of study, up to 5 years
Establish the prevalence and severity of specific morbid indicators of disease severity through use of the Nijmegen Progression CDG rating scale.
次要结局
未报告次要终点
研究者
Eva Morava-Kozicz
Principal Investigator
Icahn School of Medicine at Mount Sinai