Genetic Study of Nephrolithiasis in Gouty Diathesis

NCT00149305 | Terminated

• 1 other identifier: GOUTY DIATESIS
• Study Type: observational
• Target: 37
• Locations: 1 country
• Sites: 1

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.

Conditions

Nephrolithiasis

Keywords

Gouty diathesis; Acid uric nephrolithiasis

Study Arms (2)

Patients with gouthy diathesis

Other: Genetic analyses

Healthy subjects

Other: Genetic analyses

Interventions

Genetic analyses OTHER

Patients with gouthy diathesis

Eligibility Criteria

• Age: 10 Years - 85 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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).

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Mario Negri Institute for Pharmacological Research: lead

Study Sites (1)

Clinical Research Center for Rare Diseases

Ranica, Bergamo, 24020, Italy

Location

Biospecimen

Retention: SAMPLES WITH DNA

Whole blood on EDTA

MeSH Terms

Conditions

Nephrolithiasis

Interventions

Genetic Linkage

Condition Hierarchy (Ancestors)

Kidney Diseases; Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Urolithiasis; Male Urogenital Diseases

Intervention Hierarchy (Ancestors)

Genetic Phenomena

Study Officials

• Erica Daina, MD

  Mario Negri Institute

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 7, 2005
• First Posted: September 8, 2005
• Study Start: May 1, 2005
• Primary Completion: January 1, 2010
• Study Completion: May 1, 2010
• Last Updated: April 4, 2023

Record last verified: 2009-10

Locations

IT (1)