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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.
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| 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. |
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| Measure | Description | Time Frame |
|---|---|---|
| inflammatory blood and urinary biomarkers | Statistically significant changes (increase or decrease) in inflammatory urinary biomarkers compared to reference values | Annually for 5 years |
| Measure | Description | Time Frame |
|---|---|---|
| Longitudinal changes in eGFR | changes in eGFR during the 5 years | Annually for 5 years |
| Measure | Description | Time Frame |
|---|---|---|
| Development of new onset CKD | Development of new onset CKD stage 4 (eGFR<30) or stage 5 (eGFR<15) | Annually for 5 years |
| Lithogenic substances in the urine | Quantity of change in the substance in the urine |
Inclusion Criteria:
Exclusion Criteria:
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Individuals with Primary Hyperoxaluria, Dent Disease, Cystinuria and APRT Deficiency, Lowe syndrome, Dent Disease Carriers and Enteric Hyperoxaluria
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Barb Seide | Contact | 800-270-4637 | RareKidneyStones@mayo.edu | |
| Julie Olson, RN | Contact | 800-270-4637 | RareKidneyStones@mayo.edu |
| Name | Affiliation | Role |
|---|---|---|
| John Lieske, MD | Mayo Clinic | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University of Alabama @ Birmingham | Not yet recruiting | Birmingham | Alabama | 35294 | United States |
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| Label | URL |
|---|---|
| Mayo Clinic Clinical Trials | View source |
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| ID | Term |
|---|---|
| D006959 | Hyperoxaluria |
| D003555 | Cystinuria |
| D057973 | Dent Disease |
| D009800 | Oculocerebrorenal Syndrome |
| C538228 | Adenine phosphoribosyltransferase deficiency |
| D006960 | Hyperoxaluria, Primary |
| ID | Term |
|---|---|
| D007674 | Kidney Diseases |
| D014570 | Urologic Diseases |
| D052776 | Female Urogenital Diseases |
| D005261 | Female Urogenital Diseases and Pregnancy Complications |
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| Annually for 5 years |
| Protein in the urine | change in protein in the urine | Annually for 5 years |
| Stone events | change in number of stone events | Annually for 5 years |
| Quality of Life | change in the quality of life score | Annually for 5 years |
| Mayo Clinic Jacksonville | Not yet recruiting | Jacksonville | Florida | 32224 | United States |
|
| Children's Memorial Hospital | Not yet recruiting | Chicago | Illinois | 60614 | United States |
|
| Children's Hospital, Harvard Medical School | Not yet recruiting | Boston | Massachusetts | 02115 | United States |
|
| Mayo Clinic Hyperoxaluria Center | Recruiting | Rochester | Minnesota | 55905 | United States |
|
| New York University | Not yet recruiting | New York | New York | 10010 | United States |
|
| Cincinnati Children's Hosptial Medical Center | Not yet recruiting | Cincinnati | Ohio | 45229 | United States |
|
| Children's Hospital of Philadelphia | Not yet recruiting | Philadelphia | Pennsylvania | 19104 | United States |
|
| Hosptial of Sick Children | Not yet recruiting | Toronto | Ontario | M5G 1X8 | Canada |
|
| Landspitali Universtiy Hospital | Not yet recruiting | Reykjavik | Iceland |
|
| Shaare Zedek Medica Center | Not yet recruiting | Jerusalem | Israel |
|
| D000091642 | Urogenital Diseases |
| D052801 | Male Urogenital Diseases |
| D000608 | Renal Aminoacidurias |
| D015499 | Renal Tubular Transport, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D040181 | Genetic Diseases, X-Linked |
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D000015 | Abnormalities, Multiple |
| D000013 | Congenital Abnormalities |
| D020157 | Amino Acid Transport Disorders, Inborn |
| D008661 | Metabolism, Inborn Errors |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D002239 | Carbohydrate Metabolism, Inborn Errors |