Rare Kidney Stone Consortium Patient Registry

Recruiting

• Conditions: Dent Disease; APRT Deficiency; Cystinuria; Primary Hyperoxaluria

• Registration Number: NCT00588562
• Lead Sponsor: Mayo Clinic

Brief Summary

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

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.

Basic Information
|
Recruitment & Eligibility
|
Study & Design
|
Trial Locations

Study Timeline

• Study Start: 2003-07
• Study First Submitted: 2007-12-27
• Study First Submitted QC: 2007-12-27
• Study First Posted: 2008-01-08
• Status Verified: 2024-08
• Last Update Submitted: 2024-08-23
• Last Update Posted: 2024-08-26
• Primary Completion: 2025-06
• Study Completion: 2025-06

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 730

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.

Read More

Exclusion Criteria

• Individuals who do not have Primary Hyperoxaluria, Dent Disease, Cystinuria or APRT Deficiency.

Read More

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Establish and expand registries and collaborate with patient organizations for the rapid dissemination of knowledge	Yearly	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.

Secondary Outcome Measures

Name	Time	Method
Improved understanding of symptoms and progression of four major diseases of hereditary nephrolithiasis.	Yearly	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.

Trial Locations

Locations (4)

APRT Registry - Landspitali Universtiy Hospital; 🇮🇸 Reykjavik, Iceland

Dent Disease Registry -Mayo Clinic; 🇺🇸 Rochester, Minnesota, United States

Primary Hyperoxaluria Registry - Mayo Clinic; 🇺🇸 Rochester, Minnesota, United States

Cystinuria Registry - New York University; 🇺🇸 New York, New York, United States