Evaluation of Genetic Abnormalities Amongst Calcium Phosphate Stone Formers

Part of paid clinical trials in Iowa City, Iowa.

Sponsor
Ryan L Steinberg
Study ID
NCT06974357
Status
Recruiting
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Conditions

  • Nephrolithiasis

Eligibility Criteria

Sex
ALL
Age
18 Years - 90 Years
Healthy Volunteers
Not accepted

Interventions

  • Genetic testing — DIAGNOSTIC_TEST
    blood draws for genetic testing

Study Details

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.

Key Dates

Start date
Mar 15, 2025
Status verified
May 2025
Primary completion
Mar 1, 2027
Completion
Mar 1, 2027

Study Design

Enrollment
15 participants (estimated)
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
SCREENING

Arms

  • Experimental: Calcium Phosphate genetic testing
    drawing blood samples from patients in Urology clinic

Primary Outcome Measure

Rate of genetic variants [ Time Frame: 1 year ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
University of IowaIowa CityIowa52242
Ryan Steinberg
[email protected]
319-678-7089

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By research site
University of Iowa· Iowa City, IA

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