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| ID | Type | Description | Link |
|---|---|---|---|
| 1U54DK083908-01 | U.S. NIH Grant/Contract | View source |
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| Name | Class |
|---|---|
| National Institutes of Health (NIH) | NIH |
| National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) | NIH |
| Oxalosis and Hyperoxaluria Foundation (OHF) | OTHER |
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The purpose of this study is to collect medical information from a large number of patients in many areas of the world with primary hyperoxaluria (PH), Dent disease, Cystinuria and APRT deficiency. This information will create a registry that will help us to compare similarities and differences in patients and their symptoms. The more patients we are able to enter into the registry, the more we will be able to understand the Primary Hyperoxalurias,Dent disease, cystinuria and APRT and learn better ways of caring for patients with these diseases.
This study involves the collection of medical information to create a computer database or registry for patients with PH, Dent disease, cystinuria and APRT deficiency. The information will be entered into the registry by your physician or health care provider. The computer web site for the registry is secure and protected by a required password. Some information which will be entered may include your age at first symptoms of PH,Dent disease, cystinuria or APRT, laboratory values, kidney function and the progress of your health over time. Information for an individual patient can only be viewed by the appropriate physician or staff. Once the information is entered into the registry, you will only be identified by a code number.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Primary Hyperoxaluria patients | Registry will include data on patients with confirmed diagnosis of Primary Hyperoxaluria. | ||
| Dent Disease Patients | Registry will include data on patients with confirmed diagnosis of Dent Disease. | ||
| Cystinuria Patients | Registry will include data on patients with confirmed diagnosis of Cystinuria. | ||
| APRT deficiency Patients | Registry will include data on patients with confirmed diagnosis of APRT deficiency. |
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| Measure | Description | Time Frame |
|---|---|---|
| Establish and expand registries and collaborate with patient organizations for the rapid dissemination of knowledge | The patient Registries will expand knowledge of the clinical expression of these disease by systematically accumulating and analyzing information regarding a larger number of patients than have been studied to date. | Yearly |
| Measure | Description | Time Frame |
|---|---|---|
| Improved understanding of symptoms and progression of four major diseases of hereditary nephrolithiasis. | The goal of the patient Registries is to collect data about these rare diseases, provide a better understanding of these four conditions and help to develop new treatments. | Yearly |
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Inclusion Criteria:
Exclusion Criteria:
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Individuals with Primary Hyperoxaluria, Dent Disease, Cystinuria and APRT Deficiency.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Julie B. Olson, RN | Contact | 507-538-5995 | rarekidneystones@mayo.edu | |
| Mayo Clinic Hyperoxaluria Center | Contact | 1-800-270-4637 | hyperoxaluriacenter@mayo.edu |
| Name | Affiliation | Role |
|---|---|---|
| Dawn S. Milliner, M.D. | Primary Hyperoxaluria Registry - Mayo Clinic, Rochester, MN | Principal Investigator |
| David Goldfarb, MD | Cystinuria Registry, New York University, NY | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Dent Disease Registry -Mayo Clinic | Recruiting | Rochester | Minnesota | 55905 | United States |
Using limited data set, data will be shared through the Data Monitoring and Coordinating Center of the Rare Diseases Clinical Research Network.
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| ID | Term |
|---|---|
| D006960 | Hyperoxaluria, Primary |
| D057973 | Dent Disease |
| D003555 | Cystinuria |
| C538228 | Adenine phosphoribosyltransferase deficiency |
| D006959 | Hyperoxaluria |
| ID | Term |
|---|---|
| D007674 | Kidney Diseases |
| D014570 | Urologic Diseases |
| D052776 | Female Urogenital Diseases |
| D005261 | Female Urogenital Diseases and Pregnancy Complications |
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| John C Lieske, MD | Dent Disease Registry, Mayo Clinic, Rochester, MN | Study Director |
| Vidar Edvardsson, MD | APRT Registry, Landspitali University Hospital, Iceland | Study Director |
| Primary Hyperoxaluria Registry - Mayo Clinic | Recruiting | Rochester | Minnesota | 55905 | United States |
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| Cystinuria Registry - New York University | Recruiting | New York | New York | 10010 | United States |
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| APRT Registry - Landspitali Universtiy Hospital | Recruiting | Reykjavik | Iceland |
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| D000091642 | Urogenital Diseases |
| D052801 | Male Urogenital Diseases |
| D002239 | Carbohydrate Metabolism, Inborn Errors |
| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D015499 | Renal Tubular Transport, Inborn Errors |
| D040181 | Genetic Diseases, X-Linked |
| D000608 | Renal Aminoacidurias |