Rare Kidney Stone Consortium Patient Registry (RKSC)

Mayo Clinic

Status: Enrolling

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

Study type: Observational

Funder types: Other; NIH

Identifiers

NCT00588562

11-001702

1U54DK083908-01 (U.S. NIH Grant/Contract)

Details and patient eligibility

About

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.

Full 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.

Enrollment: 730 estimated patients

Sex: All

Ages: Under 100 years old

Volunteers: No 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.

Trial design

730 participants in 4 patient groups

Primary Hyperoxaluria patients

Description:

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

Dent Disease Patients

Description:

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

Cystinuria Patients

Description:

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

APRT deficiency Patients

Description:

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