Rare Kidney Stone Consortium Patient Registry

Study Overview
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Brief Summary
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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.

Detailed Description
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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.

Official Title
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Rare Kidney Stone Consortium Registry for Hereditary Kidney Stone Diseases

Conditions
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Primary Hyperoxaluria, Dent Disease, Cystinuria, APRT Deficiency

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Individuals must have a definitive diagnosis of Primary Hyperoxaluria, Dent Disease, Cystinuria or APRT Deficiency. Individuals have a family history of a sibling with Primary Hyperoxaluria,Dent Disease, Cystinuria or APRT Deficiency. Exclusion Criteria: Individuals who do not have Primary Hyperoxaluria, Dent Disease, Cystinuria or APRT Deficiency.

Ages Eligible for Study
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Minimum Age: 0 Years
Maximum Age: 100 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Primary Hyperoxaluria patients<br>Registry will include data on patients with confirmed diagnosis of Primary Hyperoxaluria. | |
| Dent Disease Patients<br>Registry will include data on patients with confirmed diagnosis of Dent Disease. | |
| Cystinuria Patients<br>Registry will include data on patients with confirmed diagnosis of Cystinuria. | |
| APRT deficiency Patients<br>Registry will include data on patients with confirmed diagnosis of APRT deficiency. | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | 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 | 

Secondary Outcome Measures

| Outcome Measure | 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 | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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PHI, PH, PH1, PH2, PH3, PHII, PHIII, PH NonI-NonII, Primary Hyperoxaluria, Primary Oxalosis, Hyperoxaluria, Oxalate, Cystinuria, Cystine, APRT, Adenine phosphoribosyl transferase deficiency, Dent disease, Dent