- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT00588562
Rare Kidney Stone Consortium Patient Registry (RKSC)
August 21, 2023 updated by: John Lieske, Mayo Clinic
Rare Kidney Stone Consortium Registry for Hereditary Kidney Stone Diseases
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.
Study Overview
Status
Recruiting
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 Type
Observational
Enrollment (Estimated)
730
Contacts and Locations
This section provides the contact details for those conducting the study, and information on where this study is being conducted.
Study Contact
- Name: Julie B. Olson, RN
- Phone Number: 507-538-5995
- Email: rarekidneystones@mayo.edu
Study Contact Backup
- Name: Mayo Clinic Hyperoxaluria Center
- Phone Number: 1-800-270-4637
- Email: hyperoxaluriacenter@mayo.edu
Study Locations
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Reykjavik, Iceland
- Recruiting
- APRT Registry - Landspitali Universtiy Hospital
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Contact:
- Vidar Edvardsson, MD
- Phone Number: 354-824-5227
- Email: vidare@landspitali.is
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Contact:
- Runolfur Palsson, MD
- Phone Number: 354-824-5227
- Email: runolfur@landspitali.is
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Principal Investigator:
- Vidar Edvardsson, MD
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-
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Minnesota
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Rochester, Minnesota, United States, 55905
- Recruiting
- Dent Disease Registry -Mayo Clinic
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Contact:
- Barb M Seide, Study Coord
- Phone Number: 800-270-4637
- Email: rarekidneystones@mayo.edu
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Contact:
- Julie B Olson, RN Coord
- Phone Number: 800-270-4637
- Email: rarekidneystones@mayo.edu
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Principal Investigator:
- John C Lieske, MD
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Rochester, Minnesota, United States, 55905
- Recruiting
- Primary Hyperoxaluria Registry - Mayo Clinic
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Contact:
- Barb M Seide, Study Coord
- Phone Number: 800-270-4637
- Email: hyperoxaluriacenter@mayo.edu
-
Contact:
- Julie B Olson, RN Coord
- Phone Number: 800-270-4637
- Email: hyperoxaluriacenter@mayo.edu
-
Principal Investigator:
- Dawn S. Milliner, MD
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New York
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New York, New York, United States, 10010
- Recruiting
- Cystinuria Registry - New York University
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Contact:
- David Goldfarb, MD
- Phone Number: 212-263-0744
- Email: David.Goldfarb@va.gov
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Contact:
- Frank Modersitzki, MPH
- Phone Number: 6379 216-686-7500
- Email: Frank.Modersitzki@nyumc.org
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Principal Investigator:
- David Goldfarb, MD
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Participation Criteria
Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.
Eligibility Criteria
Ages Eligible for Study
1 second to 100 years (Child, Adult, Older Adult)
Accepts Healthy Volunteers
No
Sampling Method
Non-Probability Sample
Study Population
Individuals with Primary Hyperoxaluria, Dent Disease, Cystinuria and APRT Deficiency.
Description
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.
Study Plan
This section provides details of the study plan, including how the study is designed and what the study is measuring.
How is the study designed?
Design Details
Cohorts and Interventions
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.
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
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.
|
Yearly
|
Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
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.
|
Yearly
|
Collaborators and Investigators
This is where you will find people and organizations involved with this study.
Sponsor
Collaborators
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
Publications and helpful links
The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.
Helpful Links
Study record dates
These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.
Study Major Dates
Study Start
July 1, 2003
Primary Completion (Estimated)
June 1, 2025
Study Completion (Estimated)
June 1, 2025
Study Registration Dates
First Submitted
December 27, 2007
First Submitted That Met QC Criteria
December 27, 2007
First Posted (Estimated)
January 8, 2008
Study Record Updates
Last Update Posted (Actual)
August 23, 2023
Last Update Submitted That Met QC Criteria
August 21, 2023
Last Verified
August 1, 2023
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
- Metabolic Diseases
- Kidney Diseases
- Urologic Diseases
- Genetic Diseases, Inborn
- Genetic Diseases, X-Linked
- Pathological Conditions, Anatomical
- Carbohydrate Metabolism, Inborn Errors
- Metabolism, Inborn Errors
- Renal Tubular Transport, Inborn Errors
- Renal Aminoacidurias
- Urolithiasis
- Urinary Calculi
- Calculi
- Hyperoxaluria
- Female Urogenital Diseases
- Female Urogenital Diseases and Pregnancy Complications
- Urogenital Diseases
- Male Urogenital Diseases
- Cystinuria
- Kidney Calculi
- Nephrolithiasis
- Hyperoxaluria, Primary
- Dent Disease
Other Study ID Numbers
- 11-001702
- 1U54DK083908-01 (U.S. NIH Grant/Contract)
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
YES
IPD Plan Description
Using limited data set, data will be shared through the Data Monitoring and Coordinating Center of the Rare Diseases Clinical Research Network.
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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