Recruiting

Genetic Testing

Sponsor:

Ryan L Steinberg

Code:

NCT06974357

Conditions

Nephrolithiasis

Eligibility Criteria

Sex: All

Age: 18 - 70+

Healthy Volunteers: Not accepted

Interventions

Genetic testing

Study Details

Brief 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, 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

Nephrolithiasis

Study ID

NCT06974357

Start date

Mar 15, 2025

Status verified date

May, 2025

Completion date

Mar 1, 2027

Anticipated

Primary completion date

Mar 1, 2027

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 18 - 70+

Healthy Volunteers: Not accepted

Inclusion Criteria:

  • 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

Exclusion Criteria:

- 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

Study Design

Enrollment

15 participants

Anticipated

Intervention Model

Single group

Primary purpose

Screening

Interventions and Outcome Measures

Arms

experimental: Calcium Phosphate genetic testing

drawing blood samples from patients in Urology clinic

Interventions

Genetic testing

blood draws for genetic testing

Primary outcome measure

  • Rate of genetic variants [ Time Frame: 1 year ]

Central Contacts and Locations

Central contacts

Locations

University of Iowa

Recruiting

Iowa City, Iowa, United States, 52242

Contacts

More Information

Sponsor

Ryan L Steinberg

Last update posted

May 21, 2025

Last verified

May, 2025

Keywords

  • Urolithiasis
  • Calcium Phosphates
  • Genetics
  • Urine

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-09. This information was provided to ClinicalTrials.gov by Ryan L Steinberg on 2025-05-21.