Calcium Phosphate Stone Genetics

Last updated: May 7, 2025
Sponsor: Ryan L Steinberg
Overall Status: Active - Recruiting

Phase

N/A

Condition

N/A

Treatment

Genetic testing

Clinical Study ID

NCT06974357
202503463
  • Ages 18-90
  • All Genders

Study Summary

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, we 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. We 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.

Eligibility Criteria

Inclusion

Inclusion Criteria:

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

Exclusion

Exclusion Criteria:

  • Any patient over the age of 90 years old, incarcerated or without any evidence ofcalcium 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

Study Design

Total Participants: 15
Treatment Group(s): 1
Primary Treatment: Genetic testing
Phase:
Study Start date:
March 15, 2025
Estimated Completion Date:
March 01, 2027

Connect with a study center

  • University of Iowa

    Iowa City, Iowa 52242
    United States

    Active - Recruiting

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