今天是:2019-05-24 星期五

基于全外显子检测的儿童激素耐药型肾病综合征精准医学探讨:一项回顾性、单中心队列研究
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注册号:

Registration number:

ChiCTR1900023185 

最近更新日期:

Date of Last Refreshed on:

2019-05-15 

注册时间:

Date of Registration:

2019-05-15 

注册号状态:

预注册  

Registration Status:

Prospective registration  

注册题目:

基于全外显子检测的儿童激素耐药型肾病综合征精准医学探讨:一项回顾性、单中心队列研究 

Public title:

Precision medicine of steroid-resistant nephrotic syndrome in children based on total exon detection: a retrospective, single-center cohort study 

注册题目简写:

 

English Acronym:

 

研究课题的正式科学名称:

基于全外显子检测的儿童激素耐药型肾病综合征精准医学探讨:一项回顾性、单中心队列研究 

Scientific title:

Precision medicine of steroid-resistant nephrotic syndrome in children based on total exon detection: a retrospective, single-center cohort study 

研究课题代号(代码):

Study subject ID:

 

在二级注册机构或其它机构的注册号:

The registration number of the Partner Registry or other register:

 

申请注册联系人:

李秋 

研究负责人:

阳海平 

Applicant:

Qiu Li 

Study leader:

Haiping Yang 

申请注册联系人电话:

Applicant telephone:

+86 15215150041 

研究负责人电话:

Study leader's telephone:

+86 15215150041 

申请注册联系人传真 :

Applicant Fax:

 

研究负责人传真:

Study leader's fax:

 

申请注册联系人电子邮件:

Applicant E-mail:

liqiu809@126.com 

研究负责人电子邮件:

Study leader's E-mail:

liqiu809@126.com 

申请单位网址(自愿提供):

Applicant website(voluntary supply):

 

研究负责人网址(自愿提供):

Study leader's website(voluntary supply):

 

申请注册联系人通讯地址:

重庆市渝中区中山二路136号 

研究负责人通讯地址:

重庆市渝中区中山二路136号 

Applicant address:

136 Second Zhongshan Road, Yuzhong District, Chongqing, China 

Study leader's address:

136 Second Zhongshan Road, Yuzhong District, Chongqing, China 

申请注册联系人邮政编码:

Applicant postcode:

400014 

研究负责人邮政编码:

Study leader's postcode:

400014 

申请人所在单位:

重庆医科大学附属儿童医院肾脏内科,教育部重点实验室  

Applicant's institution:

Children's Hospital of Chongqing Medical University 

是否获伦理委员会批准:

是 

Approved by ethic committee:

Yes 

伦理委员会批件文号:

Approved No. of ethic committee:

2019-20 

伦理委员会批件附件:

Approved file of Ethical Committee:

查看附件View

批准本研究的伦理委员会名称:

重庆医科大学附属儿童医院伦理审查委员会 

Name of the ethic committee:

Ethics Committee of Children's Hospital of Chongqing Medical University  

伦理委员会批准日期:

Date of approved by ethic committee:

2019-01-30 

伦理委员会联系人:

卢仲毅 

Contact Name of the ethic committee:

Zhongyi Lu 

伦理委员会联系地址:

重庆市渝中区中山二路136号 

Contact Address of the ethic committee:

136 Second Zhongshan Road, Yuzhong District, Chongqing, China  

伦理委员会联系人电话:

Contact phone of the ethic committee:

 

伦理委员会联系人邮箱:

Contact email of the ethic committee:

 

研究实施负责(组长)单位:

重庆医科大学附属儿童医院肾脏内科 

Primary sponsor:

Children's Hospital of Chongqing Medical University  

研究实施负责(组长)单位地址:

重庆渝中区中山二路136号 

Primary sponsor's address:

136 Second Zhongshan Road, Yuzhong District, Chongqing, China  

试验主办单位(项目批准或申办者):

Secondary sponsor:

国家:

中国

省(直辖市):

重庆

市(区县):

重庆

Country:

China

Province:

Chongqing

City:

Chongqing

单位(医院):

重庆医科大学附属儿童医院

具体地址:

重庆渝中区中山二路136号

Institution
hospital:

Children's Hospital of Chongqing Medical University

Address:

136 Second Zhongshan Road, Yuzhong District

经费或物资来源:

国家自然科学基金 

Source(s) of funding:

National Natural Science Fund  

研究疾病:

原发性肾病综合征 

Target disease:

Primary Nephrotic Syndrome  

研究疾病代码:

 

Target disease code:

 

研究类型:

基础科学研究 

Study type:

Basic Science 

研究所处阶段:

其它 

Study phase:

N/A 

研究目的:

建立基于全外显子测序检测儿童激素耐药型PNS的遗传背景的队列研究。 

Objectives of Study:

To establish a cohort study based on whole exon sequencing to detect the genetic background of steroid-resistant PNS in children 

药物成份或治疗方案详述:

 

Description for medicine or protocol of treatment in detail:

 

研究设计:

析因分组(即根据危险因素或暴露因素分组) 

Study design:

Factorial 

纳入标准:

(1)起病年龄半岁至18岁且随访时间大于3年; (2)初发原发性肾病综合征(primary nephrotic syndrome, PNS),其诊断标准:大量蛋白尿: 24h 蛋白尿定量≧50mg/kg 或晨尿蛋白/肌酐(mg/mg)≧2.0,1 周 3 次晨尿蛋白定性(+++-++++);低蛋白血症:血清白蛋白低于 25g/L;高脂血症:血清胆固醇高于 5.7mmol/L;不同程度的水肿。以上 4 项中以 1 和 2 为诊断的必要条件; (3)激素敏感型NS:泼尼松足量 2mg/(kg.d)或 60mg/(m2.d)治疗≤4 周尿蛋白转阴者,无复发且病情平稳3年以上者。 激素耐药型 NS: 以泼尼松足量治疗≥4 周尿蛋白仍阳性者, 又分为初治耐药和迟发耐药,后者指激素治疗 1 次或多次缓解后,再次激素治疗>4 周尿蛋白仍阳性。 

Inclusion criteria

(1) the onset age was from half a year to 18 years old, and the follow-up time was more than 3 years; (2) primary nephrotic syndrome (PNS) was established with the diagnostic criteria of hyperproteinuria: quantitative 50mg/kg of 24h proteinuria or quantitative 50mg/kg of morning urine protein/creatinine (mg/mg) 2.0, and qualitative assessment of morning urine protein (+++-++++) 3 times a week. Hypoproteinemia: serum albumin is less than 25g/L; Hyperlipidemia: serum cholesterol was higher than 5.7mmol/L. Varying degrees of edema. In the above four items, 1 and 2 are the necessary conditions for diagnosis; (3) hormone-sensitive NS: patients treated with prednisone at 2mg/(kg.d) or 60mg/(mm2. D) for less than 4 weeks of urine protein conversion without recurrence and with stable condition for more than 3 years. Steroid-resistant NS: those whose urinary protein is still positive after prednisone treatment for more than 4 weeks are further divided into initial drug resistance and late drug resistance. The latter refers to that > urinary protein is still positive after hormone treatment for 1 or more times of remission. 

排除标准:

(1)排除激素副反应明显、不能耐受激素或有激素禁忌症患者。 (2)除外肾炎型肾病综合征(nephritic-nephrotic syndrome,NNS),即具有以下四项之一或多项者: ① 2周内分别3次离心尿镜检红细胞≥10个/高倍镜视野(HP),并证实为肾小球源性血尿; ② 反复或持续高血压≥3次于不同时间点测量的收缩压和(或)舒张压大于同性别、年龄和身高的儿童青少年血压的第95百分位数,并除外糖皮质激素等原因所致; ③ 肾功能异常,并排除由于血容量不足等所致; ④ 持续低补体血症。 

Exclusion criteria:

1. patients with obvious hormone side effects, intolerance to hormones or hormone contraindications were excluded.(2) nephritic nephrotic syndrome (NNS) was excluded, i.e., one or more of the following four items: (1) Three centrifugal uroscopy examinations of erythrocyte > 10/high power microscopic field of vision (HP) were performed within 2 weeks, respectively, and confirmed to be glomerulogenic hematuria; (2) repeated or sustained hypertension 3 at different time points measured systolic blood pressure and/or diastolic blood pressure is greater than the same gender, age and height of children and adolescents of the 95th percentile of blood pressure, and the exception of glucocorticoid and other reasons; (3) renal dysfunction, and excluded due to insufficient blood volume; (4) persistent low complement blood disease. 

研究实施时间:

Study execute time:

From2019-06-01To 2019-12-31 

干预措施:

Interventions:

组别:

SSNS

样本量:

84

Group:

SSNS

Sample size:

干预措施:

干预措施代码:

Intervention:

Intervention code:

组别:

SRNS

样本量:

84

Group:

SRNS

Sample size:

干预措施:

干预措施代码:

Intervention:

Intervention code:

研究实施地点:

Countries of recruitment and research settings:

国家:

中国 

省(直辖市):

重庆 

市(区县):

重庆市辖 

Country:

China 

Province:

Chongqing 

City:

Chongqing 

单位(医院):

重庆医科大学附属儿童医院 

单位级别:

三甲医院 

Institution
hospital:

Children's Hospital of Chongqing Medical University  

Level of the institution:

Tertiary A Hospital  

测量指标:

Outcomes:

指标中文名:

基因分型

指标类型:

主要指标 

Outcome:

Genetic variants

Type:

Primary indicator 

测量时间点:

测量方法: