Rare Kidney Stone Consortium Registry for Hereditary Kidney Stone Diseases

Rare Kidney Stone Consortium Patient Registry

Sponsors

Lead sponsor: Mayo Clinic

Collaborator: National Institutes of Health (NIH)
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Oxalosis and Hyperoxaluria Foundation (OHF)

Source 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.

Overall Status Recruiting
Start Date July 2003
Completion Date June 2023
Primary Completion Date June 2023
Study Type Observational
Primary Outcome
Measure Time Frame
Establish and expand registries and collaborate with patient organizations for the rapid dissemination of knowledge Yearly
Secondary Outcome
Measure Time Frame
Improved understanding of symptoms and progression of four major diseases of hereditary nephrolithiasis. Yearly
Enrollment 730
Condition
Eligibility

Sampling method: Non-Probability Sample

Criteria:

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.

Gender: All

Minimum age: N/A

Maximum age: 100 Years

Healthy volunteers: No

Overall Official
Overall Contact

Last name: Julie B. Olson, RN

Phone: 507-538-5995

Email: [email protected]

Location
facility status contact contact_backup investigator
Dent Disease Registry -Mayo Clinic | Rochester, Minnesota, 55905, United States Recruiting Barb M Seide, Study Coord 800-270-4637 [email protected] John C Lieske, MD Principal Investigator
Primary Hyperoxaluria Registry - Mayo Clinic | Rochester, Minnesota, 55905, United States Recruiting Barb M Seide, Study Coord 800-270-4637 [email protected] Dawn S. Milliner, MD Principal Investigator
Cystinuria Registry - New York University | New York, New York, 10010, United States Recruiting David Goldfarb, MD 212-263-0744 [email protected] David Goldfarb, MD Principal Investigator
APRT Registry - Landspitali Universtiy Hospital | Reykjavik, Iceland Recruiting Vidar Edvardsson, MD 354-824-5227 [email protected] Vidar Edvardsson, MD Principal Investigator
Location Countries

Iceland

United States

Verification Date

August 2019

Responsible Party

Responsible party type: Principal Investigator

Investigator affiliation: Mayo Clinic

Investigator full name: John Lieske

Investigator title: M.D.

Keywords
Has Expanded Access No
Condition Browse
Arm Group

Arm group label: Primary Hyperoxaluria patients

Description: Registry will include data on patients with confirmed diagnosis of Primary Hyperoxaluria.

Arm group label: Dent Disease Patients

Description: Registry will include data on patients with confirmed diagnosis of Dent Disease.

Arm group label: Cystinuria Patients

Description: Registry will include data on patients with confirmed diagnosis of Cystinuria.

Arm group label: APRT deficiency Patients

Description: Registry will include data on patients with confirmed diagnosis of APRT deficiency.

Acronym RKSC
Patient Data Yes
Study Design Info

Observational model: Cohort

Time perspective: Other

Source: ClinicalTrials.gov