Validation, Implementation, and Cost-analysis of a Strategy for Personalized Diagnosis of Rare Kidney Diseases
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 300
- 试验地点
- 5
- 主要终点
- Implementation of a diagnostic algorithm for personalized diagnosis of rare kidney diseases
研究概览
简要总结
Chronic kidney disease (CKD) affects about 10% of the world population, with high morbidity and mortality. Genetic kidney diseases are increasingly recognized across all age groups and represent over 20% of all the causes of CKD. Accurate diagnosis allows necessary and unnecessary diagnostic procedures to be defined, avoids unnecessary treatments, improves prognosis prediction, identifies other family members for genetic counseling, and defines risks for living donor kidney transplantation. The research group coordinated by the Principal Investigator has recently developed an algorithm for the genetic diagnosis in pediatric and adult patients with CKD. The application of this personalized diagnostic algorithm on a local study led to a global diagnostic yield of 70%, suggesting that this strategy has the potential to substantially improve the diagnostic approach to patients with rare kidney disorders. The aim of this study is to validate and implement these results by extending its application in a multicentric study involving nephrology units that are referral centers for rare kidney diseases at national level.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Diagnostic
- 盲法
- None
入排标准
- 年龄范围
- 0 Years 至 70 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •proteinuria and/or hematuria in the absence of immune deposits on renal biopsy or immune-mediated glomerulopathy resistant to treatment (e.g., steroids, immunosuppressive drugs);
- •family history of kidney diseases and/or consanguinity;
- •extrarenal involvement;
- •ultrasound evidence of at least two cysts in each kidney or hyperechogenic kidneys or nephrocalcinosis;
- •persistent metabolic abnormalities (metabolic acidosis or alkalosis without kidney function impairment; calcium phosphate metabolism abnormalities) after exclusion of secondary causes;
- •availability of clinical information.
- •signed informed consent form
排除标准
- •Refusal by the patient, parents, or legal guardian to provide informed consent.
结局指标
主要结局
Implementation of a diagnostic algorithm for personalized diagnosis of rare kidney diseases
时间窗: From enrollment of the first patient until the end of the study (up to 24 months)
The previously established diagnostic algorithm for rare kidney diseases will be extended to out-of-region centers with a multicenter study design. This outcome will be assessed as diagnostic rate of the algorithm, i.e., number of conclusive genetic diagnosis/number of patients enrolled.
次要结局
- Analysis of the functional role of variant of unknown clinical significance (VUS)(Form enrollment until the last follow up visit (up to 12 months))
- Cost-effectiveness of the diagnostic algorithm.(From enrollment of the last patient until the end of the study (up to 24 months))
- Identification of immunological and/or structural factors in genetic and nongenetic forms.(Form enrollment until the last follow up visit (up to 12 months))
研究者
Paola Romagnani
Professor, MD, PhD
Meyer Children's Hospital IRCCS