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Genetic Study of Nephrolithiasis in Gouty Diathesis
This study is currently recruiting participants.
Verified by Mario Negri Institute for Pharmacological Research, June 2007
Sponsored by: Mario Negri Institute for Pharmacological Research
Information provided by: Mario Negri Institute for Pharmacological Research
ClinicalTrials.gov Identifier: NCT00149305
  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
Nephrolithiasis

MedlinePlus related topics: Kidney Stones
U.S. FDA Resources
Study Type: Observational
Study Design: Screening, Longitudinal, Defined Population, Prospective Study
Official Title: Genetic Study of Nephrolithiasis in Gouty Diathesis

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

Estimated Enrollment: 100
Study Start Date: May 2005
Estimated Study Completion Date: May 2010
  Show Detailed Description

  Eligibility

Ages Eligible for Study:   10 Years to 85 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
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
  • inhability 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

Contacts
Contact: Erica Daina, MD 00390354535304 daina@marionegri.it

Locations
Italy, Bergamo
Clinical Research Center for Rare Diseases Recruiting
Ranica, Bergamo, Italy, 24020
Contact: Elena Bresin, MD     00390354535304     bresin@marionegri.it    
Sponsors and Collaborators
Mario Negri Institute for Pharmacological Research
Investigators
Principal Investigator: Erica Daina, MD Mario Negri Institute
  More Information

Study ID Numbers: GOUTY DIATESIS
Study First Received: September 7, 2005
Last Updated: June 15, 2007
ClinicalTrials.gov Identifier: NCT00149305  
Health Authority: Italy: Ministry of Health

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

Study placed in the following topic categories:
Urologic Diseases
Disease Susceptibility
Urolithiasis
Kidney Diseases
Genetic Predisposition to Disease
Nephrolithiasis

ClinicalTrials.gov processed this record on January 16, 2009