Clinical Significance of Heterozygosity for Mutations of the SLC12A3 Gene Coding for the Thiazide Sensitive Na-Cl Cotransporter

Plain-language summary

This study investigates the clinical significance of carrying a single (heterozygous) mutation in the SLC12A3 gene, which is linked to Gitelman syndrome. It involves blood and urine samples along with blood pressure and blood sugar measurements. Gitelman syndrome patients, relatives carrying heterozygous mutations, and healthy relatives or volunteers without the mutation were able to take part. It was conducted as a study with no assigned phase and has been completed.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

Not Applicable

Status

Completed

Sponsor

Assistance Publique - Hôpitaux de Paris

Intervention

Samplings of blood, Sampling of urine, Measure of the blood pressure, glycemia test

Start date

12/1/2013

Estimated completion

9/1/2016

Countries

France

Related genes

Locations

• Limoges, France
• Lyon, France
• Paris, France
• Paris, France
• Toulouse, France

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

Gitelman syndrome patients, relatives carrying heterozygous mutations and relatives or healthy voluntarees without mutations.