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Active clinical trials for "Gitelman Syndrome"

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Salt Supplementation in Gitelman Syndrome

Gitelman Syndrome

The purpose of this study is to determine the effect of salt (NaCl) supplementation on serum potassium and clinical signs and symptoms in patients with Gitelman syndrome.

Recruiting4 enrollment criteria

National Registry of Rare Kidney Diseases

Adenine Phosphoribosyltransferase DeficiencyAH Amyloidosis85 more

The goal of this National Registry is to is to collect information from patients with rare kidney diseases, so that it that can be used for research. The purpose of this research is to: Develop Clinical Guidelines for specific rare kidney diseases. These are written recommendations on how to diagnose and treat a medical condition. Audit treatments and outcomes. An audit makes checks to see if what should be done is being done and asks if it could be done better. Further the development of future treatments. Participants will be invited to participate on clinical trials and other studies. The registry has the capacity to feedback relevant information to patients and in conjunction with Patient Knows Best (Home - Patients Know Best), allows patients to provide information themselves, including their own reported quality of life and outcome measures.

Recruiting4 enrollment criteria

Input of the Use of Indometacin in Gitelman Syndrome as Compared to Potassium Sparing Diuretics...

Gitelman Syndrome

Gitelman syndrome is a rare renal disease where the kidneys are unable to normally retain some salts (sodium, potassium and magnesium). Main consequences of these renal leaks of salts are a tendency toward low blood pressure, hypokalemia and hypomagnesemia both contributing to cardiac and muscles symptoms.

Completed3 enrollment criteria

Monocentric STUDY, Randomised Double Blinded (Healthy Subjects, or Transversal (Patients With Gitelman...

Gitelman SyndromePotassium Depletion

Progesterone is needed to permit adaptation of the kidney to limit potassium loss in the urines. The investigators wonder whether progesterone or other adrenal hormon play the same role. The investigators will investigate surrenal hormone production in healthy subjects under a 7-day potassium depleted diet and in patients chronically hypokalaemic due to a renal loss of potassium.

Completed41 enrollment criteria

A Translational Approach to Gitelman Syndrome

Gitelman Syndrome

This study will test the response to a single dose of thiazide diuretic as a diagnostic test for Gitelman syndrome. Individuals with hypokalemic alkalosis will be enrolled. After a baseline study, they will have the response to 50 mg hydrochlorothiazide on fractional chloride excretion examined.

Completed13 enrollment criteria

Clinical Significance of Heterozygosity for Mutations of the SLC12A3 Gene Coding for the Thiazide...

Heterozygous Carriers of Gitelman Syndrome

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.

Completed1 enrollment criteria
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