Mutational Types and Phenotypes Relationship in Autosomal Dominant Polycystic Kidney Disease
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 80
- 试验地点
- 2
- 主要终点
- The relationship between mutational types and phenotypes
研究概览
简要总结
Autosomal dominant polycystic kidney disease (ADPKD) is an inherited disease. We plan DNA analysis using the next generation sequencer (NGS) and examine the relationship between mutational types and clinical phenotypes. The accuracy of DNA analysis with NGS is tested by Sanger's method. The kidney and life survival curves will be compared between PKD1, PKD2 and non-ADPKD family members.
详细描述
80 unrelated patients with ADPKD attending to the Kyorin University Hospital whose clinical data are compiled. DNA analysis is performed at Otsuka Pharmaceutical Laboratory.
Clinical data include total kidney volume (TKV), TKV slope, eGFR, eGFR slope and other clinically relevant data.
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
- 20 Years 至 80 Years（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •The unrelated patients with ADPKD.
排除标准
- •The patients whose clinical data are not compiled.
结局指标
主要结局
The relationship between mutational types and phenotypes
时间窗: Depends on the observational period at least more than one year.
* Total Kidney Volume (TKV) measured by MRI and its slope. * Total Liver Volume (TLV) measured by MRI and its slope. * GFR estimated by plasma creatinine and cystatin C (eGFR). * Other clinical data, such as QOL scores and ADPKD-related symptoms.
次要结局
- Identify the efficacy of next generation sequencing method(One year.)
研究者
Eiji Higashihara, MD
Professor of Department of Polycystic Kidney Research, Kyorin University School of Medicine.
Kyorin University