Text Size

Genetic Study of Nephrolithiasis in Gouty Diathesis

This study has been terminated.
(Non significative preliminary data)
Sponsor:
Information provided by:
Mario Negri Institute for Pharmacological Research
ClinicalTrials.gov Identifier:
NCT00149305
First received: September 7, 2005
Last updated: October 5, 2009
Last verified: October 2009
History of Changes
  Purpose

Gouty diathesis describes uric acid or calcium oxalate nephrolithiasis and low urinary pH (<5.5). A hereditary component has been outlined for several forms of nephrolithiasis (such as hypercalciuria, hyperoxaluria, cystinuria, renal tubular acidosis), leading to the hypothesis of a genetic predisposition to nephrolithiasis. At the Unit of Nephrology, Ospedali Riuniti di Bergamo, more than 100 patients affected by gouty diathesis are followed. Fifty percent of them has a familiarity for kidney stones formation. The aim of our study is to identify the genetic factors that predispose to the development of nephrolithiasis in patients with gouty diathesis.


Condition Intervention
Nephrolithiasis
 Other: Genetic analyses

Study Type: Observational
Study Design: Observational Model: Case Control
Time Perspective: Prospective
Official Title: Genetic Study of Nephrolithiasis in Gouty Diathesis

Resource links provided by NLM:

U.S. FDA Resources

Further study details as provided by Mario Negri Institute for Pharmacological Research:

Biospecimen Retention:   Samples With DNA

Whole blood on EDTA


Enrollment: 37
Study Start Date: May 2005
Estimated Study Completion Date: May 2010
Estimated Primary Completion Date: January 2010 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
Patients with gouthy diathesis Other: Genetic analyses
Healthy subjects Other: Genetic analyses

  Show Detailed Description

  Eligibility

Ages Eligible for Study:   10 Years to 85 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population

Unrelated patients with familial form of nephrolithiasis associated with gouty diathesis (at least two affected subjects within a family).

Criteria

Inclusion Criteria:

  • male and female, ≥ 10 years of age
  • uric acid or calcium oxalate nephrolithiasis
  • urinary 24 h pH < 5.5 in absence of high animal protein intake (urinary sulphate excretion <25 mM/24 h after one week of low animal protein intake)
  • familial history of kidney stones (at least two first or second degree family members affected)
  • written informed consent according to the Declaration of Helsinki guidelines

Exclusion Criteria:

  • renal colic in the 4 weeks preceding evaluations
  • excessive gastrointestinal alkali loses
  • inability to fully understand the purposes of the study or to provide a written informed consent
  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT00149305

Locations
Italy
Clinical Research Center for Rare Diseases
Ranica, Bergamo, Italy, 24020
Sponsors and Collaborators
Mario Negri Institute for Pharmacological Research
Investigators
Principal Investigator: Erica Daina, MD Mario Negri Institute
  More Information

No publications provided

Responsible Party: Mario Negri Institute for Pharmacological Research
ClinicalTrials.gov Identifier: NCT00149305     History of Changes
Other Study ID Numbers: GOUTY DIATESIS
Study First Received: September 7, 2005
Last Updated: October 5, 2009
Health Authority: Italy: Ministry of Health

Keywords provided by Mario Negri Institute for Pharmacological Research:
Gouty diathesis
Acid uric nephrolithiasis

Additional relevant MeSH terms:
Disease Susceptibility
Genetic Predisposition to Disease
Nephrolithiasis
Disease Attributes
 Pathologic Processes
Kidney Diseases
Urologic Diseases
Urolithiasis

ClinicalTrials.gov processed this record on May 19, 2013