Trial record 1 of 3 for:    "adenine phosphoribosyltransferase deficiency"
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Rare Kidney Stone Consortium Patient Registry (RKSC)

This study is currently recruiting participants. (see Contacts and Locations)
Verified December 2013 by Mayo Clinic
Sponsor:
Collaborators:
Oxalosis and Hyperoxaluria Foundation (OHF)
Information provided by (Responsible Party):
Dawn S. Milliner, M.D., Mayo Clinic
ClinicalTrials.gov Identifier:
NCT00588562
First received: December 27, 2007
Last updated: December 19, 2013
Last verified: December 2013
  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 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
Primary Hyperoxaluria
Dent Disease
Cystinuria
APRT Deficiency

Study Type: Observational
Study Design: Observational Model: Cohort
Official Title: Rare Kidney Stone Consortium Registry for Hereditary Kidney Stone Diseases

Resource links provided by NLM:


Further study details as provided by Mayo Clinic:

Primary Outcome Measures:
  • 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.


Secondary Outcome Measures:
  • Improved understanding of symptoms and progression of four major diseases of hereditary nephrolithiasis. [ 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 new treatments.


Estimated Enrollment: 730
Study Start Date: July 2003
Estimated Study Completion Date: June 2014
Estimated Primary Completion Date: June 2014 (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 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.

  Eligibility

Genders Eligible for Study:   Both
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
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, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00588562

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

Locations
United States, Minnesota
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         
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         
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
Oxalosis and Hyperoxaluria Foundation (OHF)
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
  More Information

Additional Information:
No publications provided

Responsible Party: Dawn S. Milliner, M.D., M.D., Mayo Clinic
ClinicalTrials.gov Identifier: NCT00588562     History of Changes
Other Study ID Numbers: 11-001702, 1U54DK083908-01
Study First Received: December 27, 2007
Last Updated: December 19, 2013
Health Authority: United States: Federal Government
United States: Institutional Review Board

Keywords provided by Mayo Clinic:
Adenine phosphoribosyl transferase deficiency
PH
PH1
PH2
PH3
PHI
PHII
PHIII
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 July 26, 2014