Prospective Research Rare Kidney Stones (ProRKS)

Status: Recruiting
Location: See all (11) locations...
Study Type: Observational
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.

Eligibility
Participation Requirements
Sex: All
Healthy Volunteers: f
View:

• Diagnosis of primary hyperoxaluria

• Diagnosis of enteric hyperoxaluria

• Diagnosis of Dent Disease

• Diagnosis of Cystinuria

• Diagnosis of adenine phosphoribosyltransferase deficiency (APRTd)

• Diagnosis of Lowe Syndrome

• Diagnosis of Dent Disease Carrier

Locations
United States
Alabama
University of Alabama @ Birmingham
NOT_YET_RECRUITING
Birmingham
Florida
Mayo Clinic Jacksonville
NOT_YET_RECRUITING
Jacksonville
Illinois
Children's Memorial Hospital
NOT_YET_RECRUITING
Chicago
Massachusetts
Children's Hospital, Harvard Medical School
NOT_YET_RECRUITING
Boston
Minnesota
Mayo Clinic Hyperoxaluria Center
RECRUITING
Rochester
New York
New York University
NOT_YET_RECRUITING
New York
Ohio
Cincinnati Children's Hosptial Medical Center
NOT_YET_RECRUITING
Cincinnati
Pennsylvania
Children's Hospital of Philadelphia
NOT_YET_RECRUITING
Philadelphia
Other Locations
Canada
Hosptial of Sick Children
NOT_YET_RECRUITING
Toronto
Iceland
Landspitali Universtiy Hospital
NOT_YET_RECRUITING
Reykjavik
Israel
Shaare Zedek Medica Center
NOT_YET_RECRUITING
Jerusalem
Contact Information
Primary
Barb Seide
RareKidneyStones@mayo.edu
800-270-4637
Backup
Julie Olson, RN
RareKidneyStones@mayo.edu
800-270-4637
Time Frame
Start Date: 2016-05
Estimated Completion Date: 2026-07
Participants
Target number of participants: 220
Treatments
Primary Hyperoxaluria Patients
Patients with confirmed diagnosis of Primary Hyperoxaluria.
Dent Disease Patients
Patients with confirmed diagnosis of Dent Disease.
Cystinuria Patients
Patients with confirmed diagnosis of Cystinuria.
APRT deficiency Patients
Patients with confirmed diagnosis of adenine phosphoribosyltransferase deficiency (APRTd)
Lowe Syndrome or Dent 2 patients
Patients with confirmed diagnosis of Lowe Syndrome or Dent 2.
Dent 1 carriers
Patients with confirmed diagnosis of Dent 1. Dent 1 carriers
Enteric Hyperoxaluria Patients
Patients with confirmed diagnosis enteric hyperoxaluria.
Sponsors
Leads: Mayo Clinic

This content was sourced from clinicaltrials.gov