International Registry for Hereditary Kidney Stone Diseases
- Full Text View
- Tabular View
- No Study Results Posted
- Disclaimer
- How to Read a Study Record
Purpose
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. 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 |
|---|
|
Primary Hyperoxaluria Dent Disease Cystinuria APRT Deficiency |
| Study Type: | Observational |
| Study Design: | Observational Model: Cohort |
| Official Title: | Rare Kidney Stone Consortium's International Registry for Hereditary Kidney Stone Diseases |
- Establish and expand registries and collaborate with patient organizations for the rapid dissemination of knowledge [ Time Frame: Yearly ] [ Designated as safety issue: No ]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 four major diseases of hereditary nephrolithiasis and disease progression. [ Time Frame: Yearly ] [ Designated as safety issue: No ]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 better treatment protocols in the future.
| Enrollment: | 407 |
| Study Start Date: | July 2003 |
| Study Completion Date: | October 2012 |
| Primary Completion Date: | October 2012 (Final data collection date for primary outcome measure) |
| Groups/Cohorts |
|---|
|
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.
|
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. 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, lab 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.
Eligibility| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | No |
| Sampling Method: | Non-Probability Sample |
Individuals with Primary Hyperoxaluria, Dent Disease, Cystinuria and APRT Deficiency.
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| United States, Minnesota | |
| Primary Hyperoxaluria Registry - Mayo Clinic | |
| Rochester, Minnesota, United States, 55905 | |
| Dent Disease Registry -Mayo Clinic | |
| Rochester, Minnesota, United States, 55905 | |
| United States, New York | |
| Cystinuria Registry - New York University | |
| New York, New York, United States, 10010 | |
| Iceland | |
| APRT Registry - Landspitali Universtiy Hospital | |
| Reykjavik, Iceland | |
| 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
Additional Information:
No publications provided
| Responsible Party: | Dr. Dawn S. Milliner, Mayo Clinic |
| ClinicalTrials.gov Identifier: | NCT00588562 History of Changes |
| Other Study ID Numbers: | 07-003476, 1U54DK083908-01 |
| Study First Received: | December 27, 2007 |
| Last Updated: | February 26, 2013 |
| Health Authority: | United States: Federal Government United States: Institutional Review Board |
Keywords provided by Mayo Clinic:
|
Adenine phosphoribosyl transferase deficiency PH PH1 PH2 PHI PHII PH NonI-NonII Primary Hyperoxaluria |
Primary Oxalosis Hyperoxaluria Oxalate Cystinuria Cystine APRT Dent disease Dent |
Additional relevant MeSH terms:
|
Cystinuria Hyperoxaluria Hyperoxaluria, Primary Kidney Calculi Nephrolithiasis Metabolism, Inborn Errors Urolithiasis Dent Disease Renal Aminoacidurias Renal Tubular Transport, Inborn Errors |
Kidney Diseases Urologic Diseases Genetic Diseases, Inborn Metabolic Diseases Carbohydrate Metabolism, Inborn Errors Urinary Calculi Calculi Pathological Conditions, Anatomical Genetic Diseases, X-Linked |
ClinicalTrials.gov processed this record on June 17, 2013