RKSC: Rare Kidney Stone Consortium Patient Registry

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Primary Hyperoxaluria Dent Disease Cystinuria APRT Deficiency

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.

Study Design

Study Type:

Observational

Anticipated Enrollment :

730 participants

Observational Model:

Cohort

Time Perspective:

Other

Official Title:

Rare Kidney Stone Consortium Registry for Hereditary Kidney Stone Diseases

Study Start Date :

Jul 1, 2003

Anticipated Primary Completion Date :

Jun 1, 2025

Anticipated Study Completion Date :

Jun 1, 2025

Arms and Interventions

Arm	Intervention/Treatment
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.

Outcome Measures

Primary Outcome Measures

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

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.

Eligibility Criteria

Criteria

Ages Eligible for Study:

0 Years to 100 Years

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

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.

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	Dent Disease Registry -Mayo Clinic	Rochester	Minnesota	United States	55905
2	Primary Hyperoxaluria Registry - Mayo Clinic	Rochester	Minnesota	United States	55905
3	Cystinuria Registry - New York University	New York	New York	United States	10010
4	APRT Registry - Landspitali Universtiy Hospital	Reykjavik		Iceland

Sponsors and Collaborators

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

Investigators

Principal Investigator: Dawn S. Milliner, M.D., Primary Hyperoxaluria Registry - Mayo Clinic, Rochester, MN
Study Director: David Goldfarb, MD, Cystinuria Registry, New York University, NY
Study Director: John C Lieske, MD, Dent Disease Registry, Mayo Clinic, Rochester, MN
Study Director: Vidar Edvardsson, MD, APRT Registry, Landspitali University Hospital, Iceland