Prospective Research Rare Kidney Stones (ProRKS)

Prospective Research Rare Kidney Stones (ProRKS)

Sponsors

Lead Sponsor: Mayo Clinic

Source Mayo Clinic
Brief Summary

The purpose of this study is to determine the natural history of the hereditary forms of nephrolithiasis and chronic kidney disease (CKD), primary hyperoxaluria (PH), cystinuria, Dent disease and adenine phosphoribosyltransferase deficiency (APRTd) and acquired enteric hyperoxaluria (EH). The investigator will measure blood and urinary markers of inflammation and determine relationship to the disease course. Cross-comparisons among the disorders will allow us to better evaluate mechanisms of renal dysfunction in these disorders.

Detailed Description

Severe, hereditary forms of nephrolithiasis cause marked excretion of insoluble minerals important in stone formation, including primary hyperoxaluria, cystinuria, Dent disease, and adenine phosphoribosyltransferase deficiency (APRTd). Patients with these disorders experience recurring stones from childhood and are at high risk for chronic kidney disease caused by crystal nephropathy. Enteric hyperoxaluria is an acquired disease characterized by hyperoxaluria and calcium oxalate crystal nephropathy associated with chronic kidney disease, and in that respect similar to the inherited stone diseases. The investigators will collect longitudinal data of individual patients in order to provide clues about potentially modifiable factors that influence disease severity and identify factors leading to kidney injury. the investigator will measure blood and urinary markers of inflammation and determine relationship to the disease course. Cross-comparisons among the disorders will allow to better evaluate mechanisms of renal dysfunction in these diseases.

Overall Status Recruiting
Start Date May 2016
Completion Date July 2024
Primary Completion Date July 2024
Study Type Observational
Primary Outcome
Measure Time Frame
inflammatory blood and urinary biomarkers Annually for 5 years
Secondary Outcome
Measure Time Frame
Longitudinal changes in eGFR Annually for 5 years
Enrollment 220
Condition
Eligibility

Sampling Method: Non-Probability Sample

Criteria:

Inclusion Criteria:

1. Diagnosis of primary hyperoxaluria

2. Diagnosis of enteric hyperoxaluria

3. Diagnosis of Dent Disease

4. Diagnosis of Cystinuria

5. Diagnosis of adenine phosphoribosyltransferase deficiency (APRTd)

6. Diagnosis of Lowe Syndrome

7. Diagnosis of Dent Disease Carrier

Exclusion Criteria:

1. Prior renal failure

2. History of liver and/or kidney transplant.

Gender: All

Minimum Age: N/A

Maximum Age: N/A

Healthy Volunteers: No

Overall Official
Last Name Role Affiliation
John Lieske, MD Principal Investigator Mayo Clinic
Overall Contact

Last Name: Barb Seide

Phone: 800-270-4637

Email: [email protected]

Location
Facility: Status: Contact: Investigator:
University of Alabama @ Birmingham | Birmingham, Alabama, 35294, United States Not yet recruiting Lisa Harvey 205-996-2613 [email protected] Dean Assimos, MD Principal Investigator
Mayo Clinic Jacksonville | Jacksonville, Florida, 32224, United States Not yet recruiting Arta Palaj 904-953-3071 [email protected] William Haley, MD Principal Investigator
Children's Memorial Hospital | Chicago, Illinois, 60614, United States Not yet recruiting Heather Price, MS [email protected] Craig Langman, M.D. Principal Investigator
Children's Hospital, Harvard Medical School | Boston, Massachusetts, 02115, United States Not yet recruiting Leslie Spaneas 617-355-6129 [email protected] Michelle Baum, MD Principal Investigator
Mayo Clinic Hyperoxaluria Center | Rochester, Minnesota, 55905, United States Recruiting Barb Seide 800-270-4637 [email protected] Dawn Milliner, MD Principal Investigator
New York University | New York, New York, 10010, United States Not yet recruiting Frank Modersitzki, MPH 216-686-7500 6379 [email protected] David Goldfarb, MD Principal Investigator
Cincinnati Children's Hosptial Medical Center | Cincinnati, Ohio, 45229, United States Not yet recruiting Prasad Devarajan, MD 515-636-4200 [email protected] Prasad Decarajan, MD Principal Investigator
Children's Hospital of Philadelphia | Philadelphia, Pennsylvania, 19104, United States Not yet recruiting Taylor Moatz 267-425-3937 [email protected] Lawrence Copelovitch, MD Principal Investigator
Hosptial of Sick Children | Toronto, Ontario, M5G 1X8, Canada Not yet recruiting Lisa Robinson, MD 416-813-5082 [email protected] Elizabeth Harvey, MD Principal Investigator
Landspitali Universtiy Hospital | Reykjavik, Iceland Not yet recruiting Inger Agustsdottir, RN 354-824-5227 [email protected] Vidar Edvardsson, MD Principal Investigator
Shaare Zedek Medica Center | Jerusalem, Israel Not yet recruiting Yaacov Frishberg, MD [email protected] Yaacov Frishberg, MD Principal Investigator
Location Countries

Canada

Iceland

Israel

United States

Verification Date

November 2019

Responsible Party

Type: Principal Investigator

Investigator Affiliation: Mayo Clinic

Investigator Full Name: John Lieske

Investigator Title: PI

Keywords
Has Expanded Access No
Condition Browse
Arm Group

Label: Primary Hyperoxaluria Patients

Description: Patients with confirmed diagnosis of Primary Hyperoxaluria.

Label: Dent Disease Patients

Description: Patients with confirmed diagnosis of Dent Disease.

Label: Cystinuria Patients

Description: Patients with confirmed diagnosis of Cystinuria.

Label: APRT deficiency Patients

Description: Patients with confirmed diagnosis of adenine phosphoribosyltransferase deficiency (APRTd)

Label: Lowe Syndrome or Dent 2 patients

Description: Patients with confirmed diagnosis of Lowe Syndrome or Dent 2.

Label: Dent 1 carriers

Description: Patients with confirmed diagnosis of Dent 1. Dent 1 carriers

Label: Enteric Hyperoxaluria Patients

Description: Patients with confirmed diagnosis enteric hyperoxaluria.

Acronym ProRKS
Patient Data No
Study Design Info

Observational Model: Cohort

Time Perspective: Prospective

Source: ClinicalTrials.gov