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:

MedlinePlus related topics: Kidney Stones

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

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: 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:


Nephrolithiasis Kidney Diseases Urolithiasis Urologic Diseases

ClinicalTrials.gov processed this record on March 03, 2015

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