Clinical trial NCT02780297: Prospective Research Rare Kidney Stones (ProRKS)
Official title: Prospective Research Rare Kidney Stones (ProRKS)
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Hyperoxaluria
Cystinuria
Dent Disease
Lowe Syndrome
Adenine Phosphoribosyltransferase Deficiency
Keywords: primary hyperoxaluria
Dent Disease
enteric hyperoxaluria
cystinuria
Lowe Syndrome
Adenine phosphoribosyltransferase deficiency
PH
APRTd
APRT
hyperoxaluria
oxalate
oxalosis
PH type 1
PH type 2
PH type 3
Dents
Dent
Dent 1
Dent 2
APRT deficiency
Lead sponsor: Mayo Clinic
Sponsor class: OTHER
First posted: 2016-05-23
Enrollment: 220
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Individuals with Primary Hyperoxaluria, Dent Disease, Cystinuria and APRT Deficiency, Lowe syndrome, Dent Disease Carriers and Enteric Hyperoxaluria

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.

Eligibility 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.

Primary outcomes:
measure: inflammatory blood and urinary biomarkers
timeFrame: Annually for 5 years
Secondary outcomes:
measure: Longitudinal changes in eGFR
timeFrame: Annually for 5 years
Other outcomes:
measure: Development of new onset CKD
timeFrame: Annually for 5 years
measure: Lithogenic substances in the urine
timeFrame: Annually for 5 years
measure: Protein in the urine
timeFrame: Annually for 5 years
measure: Stone events
timeFrame: Annually for 5 years
measure: Quality of Life
timeFrame: Annually for 5 years
Locations:
city: Birmingham
country: United States
facility: University of Alabama @ Birmingham
state: Alabama
city: Jacksonville
country: United States
facility: Mayo Clinic Jacksonville
state: Florida
city: Chicago
country: United States
facility: Children's Memorial Hospital
state: Illinois
city: Boston
country: United States
facility: Children's Hospital, Harvard Medical School
state: Massachusetts
city: Rochester
country: United States
facility: Mayo Clinic Hyperoxaluria Center
state: Minnesota
city: New York
country: United States
facility: New York University
state: New York
city: Cincinnati
country: United States
facility: Cincinnati Children's Hosptial Medical Center
state: Ohio
city: Philadelphia
country: United States
facility: Children's Hospital of Philadelphia
state: Pennsylvania
city: Toronto
country: Canada
facility: Hosptial of Sick Children
state: Ontario
city: Reykjavik
country: Iceland
facility: Landspitali Universtiy Hospital
city: Jerusalem
country: Israel
facility: Shaare Zedek Medica Center
Study officials:
affiliation: Mayo Clinic
name: John Lieske, MD
role: PRINCIPAL_INVESTIGATOR
References: