Skip to main content
OpenTrials
Recruiting

NCT Number: NCT06974357

Evaluation of Genetic Abnormalities Amongst Calcium Phosphate Stone Formers

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.

Recruiting

Interested in participating?

Request Info

Key information

Age range

18 year–90 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

University of Iowa

Iowa City, Iowa, 52242, United States

Location status: Recruiting

Location contact

Ryan Steinberg

CONTACT

[email protected]

319-678-7089

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Genetic testing

Diagnostic Test

blood draws for genetic testing

Primary outcomes

  1. Rate of genetic variants

    Time frame: 1 year

    assess the overall rate of genetic variants among the stone population

Study contacts

Contact information is provided by the study sponsor or research team.

Ryan Steinberg, MD

CONTACT

[email protected]

3196787089

Sponsors and collaborators

Lead sponsor

Ryan L Steinberg

Other

Registry information

Official study title

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

Important dates

Study start
2025
Primary completion
2027
Study completion
2027
First posted
May 15, 2025
Registry last updated
May 21, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.