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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
Sponsor:
Collaborators:
National Institutes of Health (NIH)
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Oxalosis and Hyperoxaluria Foundation (OHF)
Information provided by (Responsible Party):
John Lieske, Mayo Clinic

Study Description
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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
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
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Study Type : Observational
Estimated Enrollment : 730 participants
Observational Model: Cohort
Time Perspective: Other
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

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Kidney Stones

Groups and Cohorts
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Group/Cohort
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
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Primary Outcome Measures :
  1. 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.


Secondary Outcome Measures :
  1. 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.


Eligibility Criteria
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Information from the National Library of Medicine

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.


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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
Study Population
Individuals with Primary Hyperoxaluria, Dent Disease, Cystinuria and APRT Deficiency.
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.
Contacts and Locations
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Information from the National Library of Medicine

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


Contacts
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Contact: Julie B. Olson, RN 507-538-5995 rarekidneystones@mayo.edu
Contact: Mayo Clinic Hyperoxaluria Center 1-800-270-4637 hyperoxaluriacenter@mayo.edu

Locations
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United States, Minnesota
Dent Disease Registry -Mayo Clinic Recruiting
Rochester, Minnesota, United States, 55905
Contact: Barb M Seide, Study Coord    800-270-4637    rarekidneystones@mayo.edu   
Contact: Julie B Olson, RN Coord    800-270-4637    rarekidneystones@mayo.edu   
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    hyperoxaluriacenter@mayo.edu   
Contact: Julie B Olson, RN Coord    800-270-4637    hyperoxaluriacenter@mayo.edu   
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         
Iceland
APRT Registry - Landspitali Universtiy Hospital Recruiting
Reykjavik, Iceland
Contact: Vidar Edvardsson, MD    354-824-5227    vidare@landspitali.is   
Contact: Runolfur Palsson, MD    354-824-5227    runolfur@landspitali.is   
Principal Investigator: Vidar Edvardsson, MD         
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
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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
More Information
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Additional Information:

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Responsible Party: John Lieske, M.D., Mayo Clinic
ClinicalTrials.gov Identifier: NCT00588562    
Other Study ID Numbers: 11-001702
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.
Keywords provided by John Lieske, Mayo Clinic:
Cystinuria
PH
PH1
PH2
PH3
PHI
PHII
PHIII
PH NonI-NonII
 Primary Hyperoxaluria
Primary Oxalosis
Hyperoxaluria
Oxalate
Cystine
APRT
Adenine phosphoribosyl transferase deficiency
Dent disease
Dent
Additional relevant MeSH terms:
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Cystinuria
Kidney Calculi
Nephrolithiasis
Hyperoxaluria, Primary
Dent Disease
Kidney Diseases
Urologic Diseases
Urolithiasis
Urinary Calculi
Calculi
 Pathological Conditions, Anatomical
Hyperoxaluria
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases
Renal Aminoacidurias
Renal Tubular Transport, Inborn Errors
Genetic Diseases, X-Linked