Cystine Capacity Clinical Study (CysCap)

The purpose of this study is to determine whether urinary cystine capacity, an assay used to measure the amount of cystine in the urine, can be used to predict stone recurrence in patients with cystinuria.

Study Overview

• Status: Completed
• Conditions: Cystinuria

Detailed Description

Cystinuria is a rare genetic cause of kidney stones that leads to significant morbidity due to the recurrent nature of the disease. Despite recent advancements in knowledge about cystinuria, such as the discovery of the genetic defects that cause the disease, there have been very few studies of clinical determinants of recurrent stone formation. An optimal method of measuring cystine solubility in the urine has been lacking, and therefore response to pharmacologic and dietary therapy is often not known. Recently, a new assay to measure the amount of cystine in the urine was developed called Cystine Capacity, or CysCap. It is an assay that adds a pre-formed amount of cystine crystals to urine and measures the amount of cystine the urine can take up from the solid phase (in undersaturated urine) or gives up to solid phase (in supersaturated urine). This study seeks to examine how well this measure of urinary cystine predicts stone occurrence, with the ultimate goal of helping to guide therapy and preventing kidney stones in cystinurics.

This is an observational study over 3 years. Subjects who are enrolled in the study will perform semi-annual 24-hour urine collections. They will undergo imaging of the kidneys every 6 months to monitor kidney stone formation or growth, in order to correlate urinary parameters with clinical events. The study will examine how well the urinary cystine capacity predicts stone formation.

• Study Type: Observational
• Enrollment (Actual): 30

Contacts and Locations

Study Locations

• United States
  • New York
    • New York, New York, United States, 10016
      • NYU Langone Medical Center

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 8 years to 80 years (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

For patients to be enrolled in this study they must have a diagnosis of cystinuria.

Description

Inclusion Criteria:

• Patients with a confirmed laboratory diagnosis of cystinuria will be included in this study. There will be no age barrier to inclusion, but included patients must be able to reliably collect urine for 24 hours. Men and women will be recruited equally and there are no restrictions for racial or ethnic origin in this study.
• Patient enrollment will require signing of an informed consent document approved by the Lenox Hill IRB.
• For children 8-18 years of age, signing an assent to participate will also be required.

Exclusion Criteria:

• Patients will be excluded if they cannot sign consent or assent.
• Furthermore if the patient cannot reliably collect urine for 24 hours or adhere to study follow up visit requirements.

Study Plan

How is the study designed?

Design Details

• Observational Models: Case-Only
• Time Perspectives: Prospective

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
Cystinuria

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Cystine capacity will be correlated with recurrence or non-recurrence of stones	The primary end point will be cystine capacity in participants who do and do not have recurrence of stones seen on radiologic imaging in the ipsilateral kidney which was rendered stone-free prior to enrollment. Subjects who are enrolled in the study will perform semi-annual 24-hour urine collections for measurement of cystine capacity. They will undergo imaging of the kidneys every 6 months to monitor kidney stone formation or growth, in order to correlate urinary parameters with clinical events.	every 6 months over 3 years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
24-hour urine cystine excretion	We will compare 24 hour urine cystine excretion in patients who remain stone free and those who experience stone recurrence.	every 6 months over 3 years
episodes of renal colic and/or stone passage from a kidney that was previously stone-free	Assessed by renal imaging, either ultrasound or CT scan, every 6 months.	every 6 months over 3 years
Evidence of new asymptomatic stones noted on the contralateral kidney	Cystine capacity will be compared in participants with or without recurrence of stones in the contralateral kidney by renal ultrasound or CT scan	every 6 months over 3 year observational study

Collaborators and Investigators

• Sponsor: NYU Langone Health
• Investigators: Principal Investigator: David S Goldfarb, MD, NYU Langone Health

Publications and helpful links

General Publications

• Goldfarb DS, Coe FL, Asplin JR. Urinary cystine excretion and capacity in patients with cystinuria. Kidney Int. 2006 Mar;69(6):1041-7. doi: 10.1038/sj.ki.5000104.

Helpful Links

• Rare Kidney Stone Consortium

Study record dates

Study Major Dates

• Study Start (Actual): September 1, 2012
• Primary Completion (Actual): February 24, 2017
• Study Completion (Actual): February 24, 2017

Study Registration Dates

• First Submitted: June 4, 2013
• First Submitted That Met QC Criteria: April 18, 2014
• First Posted (Estimate): April 22, 2014

Study Record Updates

• Last Update Posted (Actual): December 3, 2018
• Last Update Submitted That Met QC Criteria: November 29, 2018
• Last Verified: November 1, 2018

More Information

Terms related to this study

• Keywords: urolithiasis; Renal aminoaciduria; cystinuria; D-penicillamine; renal tubular transport; inborn errors; tiopronin
• Additional Relevant MeSH Terms: Kidney Diseases; Urologic Diseases; Genetic Diseases, Inborn; Renal Tubular Transport, Inborn Errors; Renal Aminoacidurias; Cystinuria
• Other Study ID Numbers: 6402

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No