Rare Kidney Stone Consortium Patient Registry (RKSC)
|The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.|
|ClinicalTrials.gov Identifier: NCT00588562|
Recruitment Status : Recruiting
First Posted : January 8, 2008
Last Update Posted : August 22, 2022
- Study Details
- Tabular View
- No Results Posted
- How to Read a Study Record
|Condition or disease|
|Primary Hyperoxaluria Dent Disease Cystinuria APRT Deficiency|
|Study Type :||Observational|
|Estimated Enrollment :||730 participants|
|Official Title:||Rare Kidney Stone Consortium Registry for Hereditary Kidney Stone Diseases|
|Study Start Date :||July 2003|
|Estimated Primary Completion Date :||June 2025|
|Estimated Study Completion Date :||June 2025|
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.
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.
- Establish and expand registries and collaborate with patient organizations for the rapid dissemination of knowledge [ Time Frame: 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.
- Improved understanding of symptoms and progression of four major diseases of hereditary nephrolithiasis. [ Time Frame: 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.
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.
|Ages Eligible for Study:||0 Years to 100 Years (Child, Adult, Older Adult)|
|Sexes Eligible for Study:||All|
|Accepts Healthy Volunteers:||No|
|Sampling Method:||Non-Probability Sample|
- 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.
- Individuals who do not have Primary Hyperoxaluria, Dent Disease, Cystinuria or APRT Deficiency.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00588562
|Contact: Julie B. Olson, RNfirstname.lastname@example.org|
|Contact: Mayo Clinic Hyperoxaluria Centeremail@example.com|
|United States, Minnesota|
|Dent Disease Registry -Mayo Clinic||Recruiting|
|Rochester, Minnesota, United States, 55905|
|Contact: Barb M Seide, Study Coord 800-270-4637 firstname.lastname@example.org|
|Contact: Julie B Olson, RN Coord 800-270-4637 email@example.com|
|Principal Investigator: John C Lieske, MD|
|Primary Hyperoxaluria Registry - Mayo Clinic||Recruiting|
|Rochester, Minnesota, United States, 55905|
|Contact: Barb M Seide, Study Coord 800-270-4637 firstname.lastname@example.org|
|Contact: Julie B Olson, RN Coord 800-270-4637 email@example.com|
|Principal Investigator: Dawn S. Milliner, MD|
|United States, New York|
|Cystinuria Registry - New York University||Recruiting|
|New York, New York, United States, 10010|
|Contact: David Goldfarb, MD 212-263-0744 David.Goldfarb@va.gov|
|Contact: Frank Modersitzki, MPH 216-686-7500 ext 6379 Frank.Modersitzki@nyumc.org|
|Principal Investigator: David Goldfarb, MD|
|APRT Registry - Landspitali Universtiy Hospital||Recruiting|
|Contact: Vidar Edvardsson, MD 354-824-5227 firstname.lastname@example.org|
|Contact: Runolfur Palsson, MD 354-824-5227 email@example.com|
|Principal Investigator: Vidar Edvardsson, MD|
|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|
|Responsible Party:||John Lieske, M.D., Mayo Clinic|
|Other Study ID Numbers:||
1U54DK083908-01 ( U.S. NIH Grant/Contract )
|First Posted:||January 8, 2008 Key Record Dates|
|Last Update Posted:||August 22, 2022|
|Last Verified:||August 2022|
|Individual Participant Data (IPD) Sharing Statement:|
|Plan to Share IPD:||Yes|
|Plan Description:||Using limited data set, data will be shared through the Data Monitoring and Coordinating Center of the Rare Diseases Clinical Research Network.|
Adenine phosphoribosyl transferase deficiency
Pathological Conditions, Anatomical
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Renal Tubular Transport, Inborn Errors
Genetic Diseases, X-Linked