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临床试验/NCT06974357
NCT06974357招募中不适用

Evaluation of Genetic Abnormalities Amongst Calcium Phosphate Predominant Stone Formers With Alkaline Urine pH on 24 Hour Urine Testing

Ryan L Steinberg1 个研究点 分布在 1 个国家目标入组 15 人开始时间: 2025年3月15日最近更新:
适应症
干预措施

试验速览

阶段
不适用
状态
招募中
发起方
入组人数
15
试验地点
1
主要终点
Rate of genetic variants

研究概览

简要总结

Kidney stones continue to affect more and more people in the United States with the most recent estimate being 1 in 9 people will develop a stone in their life. While family history is a known risk factor for stone disease, it remains unclear whether this is related to learned dietary habits or a truly inheritable genetic condition. Known inheritable genetic conditions linked to stone formation are uncommon, and thus, routine genetic testing is not currently recommended by any major urologic organizations. Patients who form calcium phosphate predominant stones, a less common type of stone composition, tend to have alkaline urine pH which suggests that the kidneys are unable to rid the body of acid. Management of such patients for stone prevention can be difficult. The Iowa Institute for Human Genomics is one of only a handful of commercial labs which offers genetic testing for stone disease. The aim of this study is to assess the rate of genetic abnormalities amongst calcium phosphate predominant stone formers with alkaline urine. To this end, the investigators plan to enroll calcium phosphate predominant stone forming patients with alkaline urine on 24 hour urine collection who obtain their health care at UIHC to undergo free genetic testing via blood draw to assess for genetic abnormalities. The investigators will also collect information already available in the subject's chart to assess for other patterns between blood and urine tests and any genetic variants.

研究设计

研究类型
Interventional
分配方式
Na
干预模型
Single Group
主要目的
Screening
盲法
None

入排标准

年龄范围
18 Years 至 90 Years(Adult, Older Adult)
性别
All
接受健康志愿者
否

入选标准

  • •Any patient, aged 18-90 and not incarcerated, under the care of a urologist at UIHC with known kidney stone composition including >=60% calcium phosphate and baseline 24 hour urine pH of >=6.3

排除标准

  • •Any patient over the age of 90 years old, incarcerated or without any evidence of calcium phosphate stone composition
  • •No struvite component on prior stone analysis
  • •No bacteria with urease producing organism at time of stone removal
  • •No history or evidence of systemic acidosis
  • •No use of acetazolamide, topiramate, zonisamide, valproic acid
  • •Stage >=3 CKD (GFR<60)
  • •Hepatic disease
  • •Pregnancy
  • •History of osteoporosis

研究组 & 干预措施

Calcium Phosphate genetic testing

Experimental

drawing blood samples from patients in Urology clinic

干预措施: Genetic testing (Diagnostic Test)

结局指标

主要结局

Rate of genetic variants

时间窗: 1 year

assess the overall rate of genetic variants among the stone population

次要结局

未报告次要终点

研究者

发起方
Ryan L Steinberg
申办方类型
Other
责任方
Sponsor Investigator
主要研究者

Ryan L Steinberg

Clinical Assistant Professor

University of Iowa

研究点 (1)

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