Actively Recruiting
Evaluation of Genetic Abnormalities Amongst Calcium Phosphate Stone Formers
Led by Ryan L Steinberg · Updated on 2025-05-21
15
Participants Needed
1
Research Sites
102 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
Evaluation of Genetic Abnormalities Amongst Calcium Phosphate Stone Formers
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Age between 18 and 90 years
- Under care of a urologist at UIHC
- Known kidney stone composition with 60% or more calcium phosphate
- Baseline 24-hour urine pH of 6.3 or higher
- Not incarcerated
You will not qualify if you...
- Older than 90 years
- Incarcerated
- No evidence of calcium phosphate stone composition
- Presence of struvite component on prior stone analysis
- Bacteria with urease producing organism at time of stone removal
- History or evidence of systemic acidosis
- Use of acetazolamide, topiramate, zonisamide, or valproic acid
- Stage 3 or higher chronic kidney disease (GFR below 60)
- Hepatic disease
- Pregnancy
- History of osteoporosis
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
University of Iowa
Iowa City, Iowa, United States, 52242
Actively Recruiting
Research Team
R
Ryan Steinberg, MD
CONTACT
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SINGLE_GROUP
Primary Purpose
SCREENING
Number of Arms
1
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