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Genetic Study of Nephrolithiasis in Gouty Diathesis

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ClinicalTrials.gov Identifier: NCT00149305
Recruitment Status : Terminated (Non significative preliminary data)
First Posted : September 8, 2005
Last Update Posted : April 9, 2015
Sponsor:
Information provided by:
Mario Negri Institute for Pharmacological Research

Study Description
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Brief Summary:
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 or disease Intervention/treatment
Nephrolithiasis Other: Genetic analyses

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Study Design
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Study Type : Observational
Actual Enrollment : 37 participants
Observational Model: Case Control
Time Perspective: Prospective
Official Title: Genetic Study of Nephrolithiasis in Gouty Diathesis
Study Start Date : May 2005
Actual Primary Completion Date : January 2010
Actual Study Completion Date : May 2010

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Kidney Stones

Groups and Cohorts
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Group/Cohort Intervention/treatment
Patients with gouthy diathesis Other: Genetic analyses
Healthy subjects Other: Genetic analyses


Outcome Measures
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Biospecimen Retention:   Samples With DNA
Whole blood on EDTA

Eligibility Criteria
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Ages Eligible for Study:   10 Years to 85 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
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
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): 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
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Responsible Party: Mario Negri Institute for Pharmacological Research
ClinicalTrials.gov Identifier: NCT00149305     History of Changes
Other Study ID Numbers: GOUTY DIATESIS
First Posted: September 8, 2005    Key Record Dates
Last Update Posted: April 9, 2015
Last Verified: October 2009

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

Additional relevant MeSH terms:
Nephrolithiasis
Kidney Calculi
Disease Susceptibility
Kidney Diseases
Urologic Diseases
Urolithiasis
 Urinary Calculi
Calculi
Pathological Conditions, Anatomical
Disease Attributes
Pathologic Processes