Trial record 3 of 3 for:    "Gitelman syndrome"

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

This study is currently recruiting participants. (see Contacts and Locations)
Verified June 2013 by Assistance Publique - Hôpitaux de Paris
Sponsor:
Collaborator:
Ministry of Health, France
Information provided by (Responsible Party):
Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier:
NCT02035046
First received: December 18, 2013
Last updated: January 10, 2014
Last verified: June 2013
  Purpose

Gitelman syndrome is a salt wasting tubulopathy caused by mutations in the SLC12A3 gene coding for the thiazide sensitive sodium chloride cotransporter. This disease mimics the chronic treatment with thiazide diuretics and is characterized by renal hypokalemia, low to normal blood pressure, hypocalciuria and hypomagnesemia. The purpose of this study is to determine whether the heterozygous carriers present the metabolic risks and/or the benefits of this disease.


Condition Intervention
Heterozygous Carriers of Gitelman Syndrome
Procedure: Blood sample
Procedure: Urine sample
Procedure: Blood pressure

Study Type: Interventional
Study Design: Allocation: Non-Randomized
Intervention Model: Parallel Assignment
Masking: Open Label
Primary Purpose: Diagnostic
Official Title: Clinical Significance of Heterozygosity for Mutations of the SLC12A3 Gene Coding for the Thiazide Sensitive Na-Cl Cotransporter

Resource links provided by NLM:


Further study details as provided by Assistance Publique - Hôpitaux de Paris:

Primary Outcome Measures:
  • Systolic blood pressure evaluated by self-measurement [ Time Frame: 3 days ] [ Designated as safety issue: No ]
    self-measurement at home, 3 times a day during 3 consecutive days


Secondary Outcome Measures:
  • Salt balance [ Time Frame: 1 day ] [ Designated as safety issue: No ]
    Blood renin and aldosterone measurements, 24h urinary sodium and aldosterone excretion

  • Potassium metabolism [ Time Frame: 1 day ] [ Designated as safety issue: No ]
    Dietary intake, blood potassium and 24 h urinary potassium excretion

  • Lipide metabolism [ Time Frame: 1 day ] [ Designated as safety issue: No ]
    BMI, blood cholesterol, LDL, HDL and triglycerides.

  • Glucose, insulin, HOMA index, pre and post test [ Time Frame: 1 day ] [ Designated as safety issue: No ]
  • Mineral metabolism [ Time Frame: 1 day ] [ Designated as safety issue: No ]
    Blood and urinary calcium, magnesium and phosphate. PTH, 25 OH vitamin D calcitriol, bone remodeling markers

  • Renal function [ Time Frame: 1 day ] [ Designated as safety issue: No ]
    Estimated GFR, proteinuria and albuminuria

  • Vascular function evaluation [ Time Frame: 1 day ] [ Designated as safety issue: No ]
    Pulse wave velocity and central blood pressure. Blood and urinary vascular function markers


Estimated Enrollment: 250
Study Start Date: December 2013
Estimated Study Completion Date: March 2017
Estimated Primary Completion Date: January 2017 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
controls persons
controls persons
Procedure: Blood sample Procedure: Urine sample Procedure: Blood pressure
GS patients
GS patients
Procedure: Blood sample Procedure: Urine sample Procedure: Blood pressure
heterozygous carriers
heterozygous carriers
Procedure: Blood sample Procedure: Urine sample Procedure: Blood pressure

Detailed Description:

Gitelman syndrome (GS), is an autosomal recessive salt wasting tubulopathy caused mainly by loss of function mutations in the SLC12A3 gene coding for the thiazide sensitive sodium-chloride cotransporter (NCC). Thus, GS mimics a chronic treatment with high doses of thiazide diuretics. NCC is expressed in the distal convoluted tubule, which is responsible for 7% of sodium chloride reabsorption. GS is the more frequent hereditary tubulopathy with estimated prevalence of 1/40000, which implicates that 1% of general population are heterozygous carriers (600 000 in France). Previous publications suggest that the apparently asymptomatic heterozygous carriers could present some clinical traits of GS or chronic thiazide treatment. These including: beneficial aspects (low blood pressure, low urinary calcium excretions) or metabolic risks (hypokalemia, insulin resistance). Nevertheless, these studies do not evaluate all the aspects and blood pressure was evaluated once in hospital setting. This study aims to compare home monitoring blood pressure; salt balance; potassium, glucose lipid and mineral metabolism and vascular function in 100 heterozygous carriers, 50 GS patients and 100 controls persons (without mutations in SLC12A3 gene).

  Eligibility

Ages Eligible for Study:   18 Years to 75 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Criteria

Inclusion Criteria:

  • Gitelman syndrome patients, relatives carrying heterozygous mutations and relatives or healthy voluntaries without mutations.
  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: NCT02035046

Locations
France
Nephrology Department. Centre Hospitalier Universitaire, Hôpital Dupuytren Not yet recruiting
Limoges, France, 87042 Limoges cedex
Contact: Marie Essig, MD, PhD    +33 (0)5 55 05 64 51    marie.essig@inserm.fr   
Contact: Julien Allard, MD       Julien.Allard@chu-limoges.fr   
Department of Functional Investigations. Hospices Civils de Lyon, Hôpital Edouard Herriot. Not yet recruiting
Lyon, France, 69437 Lyon
Contact: Laurence Dubourg, MD, PhD    +33 (0)4 72 11 02 44    laurence.dubourg@chu-lyon.fr   
Clinical Research Center. Assistance Publique Hôpitaux de Paris, Hôpital Européen Georges Pompidou. Recruiting
Paris, France, 75908
Contact: Anne Blanchard, MD, PhD    +33 (0)1 56 09 29 13    anne.balanchard@egp.aphp.fr   
Department of Functional Investigations. Assistance Publique Hôpitaux de Paris, Hôpital Tenon Not yet recruiting
Paris, France, 75020
Contact: Jean Philippe Haymann, MD, PhD    +33 (0)1 56 01 67 74    jean-philippe.haymann@tnn.aphp.fr   
Department of Functional Investigations. Centre Hospitalier Universitaire, Hôpital de Rangueil. Not yet recruiting
Toulouse, France, 31059 TOULOUSE cedex 9
Contact: Ivan Tack, MD, PhD    + 33 (0)5 61 32 26 83    tack.i@chu-toulouse.fr   
Contact: Marion Vallet, MD, PhD    + 33 (0)5 61 32 26 83    vallet.m@chu-toulouse.fr   
Sponsors and Collaborators
Assistance Publique - Hôpitaux de Paris
Ministry of Health, France
Investigators
Principal Investigator: Rosa Vargas-Poussou, MD, PhD Departement of Genetics. Assistance Publique Hôpitaux de Paris,Hôpital Européen Georges Pompidou.
Study Director: Anne Blanchard, MD, PhD Clinical Research Center. Assistance Publique Hôpitaux de Paris, Hôpital Européen Georges Pompidou. Paris, France
Study Chair: Marie Essig, MD, PhD Departement of Nephrology. Centre Hospitalier Universitaire. Limoges, France
Study Chair: Jean Philippe Haymann, MD, PhD Department of Functional Investigations. Assistance Publique Hôpitaux de Paris, Hôpital Tenon, Paris, France
Study Chair: Ivan Tack, MD, PhD Department of Functional Investigations. Centre Hospitalier Universitaire, Hôpital de Rangueil. Toulouse, France
Study Chair: Laurence DUBOURG, MD, PhD Department of Functional Investigations. Hospices Civils de Lyon, Hôpital Edouard Herriot. Lyon, France
  More Information

Publications:
Responsible Party: Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier: NCT02035046     History of Changes
Other Study ID Numbers: P120111
Study First Received: December 18, 2013
Last Updated: January 10, 2014
Health Authority: France: Ministry of Health

Keywords provided by Assistance Publique - Hôpitaux de Paris:
Gitelman
Heterozygous SLC12A3 mutation
Blood pressure
Hypokalemia

Additional relevant MeSH terms:
Gitelman Syndrome
Renal Tubular Transport, Inborn Errors
Kidney Diseases
Urologic Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases

ClinicalTrials.gov processed this record on August 18, 2014