RecruitingNCT06922370
Renal
Gitelman Syndrome
Also known as familial hypokalemia-hypomagnesemia, SLC12A3 mutation, Gitelman-Bartter
Gitelman syndrome is an autosomal recessive disorder caused by loss-of-function mutations in SLC12A3 encoding the thiazide-sensitive sodium-chloride cotransporter (NCC) in the distal convoluted tubule, resulting in salt wasting, hypokalaemi
ORPHA:358 ↗Gene SLC12A3Prevalence Approximately 1–10 per 40,000; one of the more common inherited tubular disordersOnset Adolescence to adulthood (rarely childhood)
2
studies recruiting now
as of 7 Sept 2026
7
studies registered in total
as of 7 Sept 2026
2
countries with a recruiting site
as of 7 Sept 2026
10 Apr 2025
most recent study posted
among recruiting studies
Recruiting trials
RecruitingNCT06065852
National Registry of Rare Kidney Diseases
Showing the 2 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
Search all Gitelman Syndrome studiesWhere recruiting studies are running
Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
Keep watching
Get an email when a new Gitelman Syndrome study opens.
One email a day at most. Unsubscribe with one click.
Used only for these alerts. Privacy.
Support
Patient organisations
Registry: ERKNet Registry · Join ↗. Registries connect patients to researchers and often hear about trials first.
About Gitelman Syndrome
Gitelman syndrome is an autosomal recessive disorder caused by loss-of-function mutations in SLC12A3 encoding the thiazide-sensitive sodium-chloride cotransporter (NCC) in the distal convoluted tubule, resulting in salt wasting, hypokalaemia, hypomagnesaemia, and metabolic alkalosis. Unlike Bartter syndrome, Gitelman syndrome typically presents in older children or adults with milder symptoms including muscle weakness, fatigue, salt craving, and tetany. Renal function is usually preserved, and the condition is often diagnosed incidentally on routine electrolyte testing.
Common clinical features
Hypokalaemia (often asymptomatic or with fatigue)HypomagnesaemiaSalt cravingMuscle weakness, cramps, and tetanyMetabolic alkalosisHypocalciuria (distinguishing from Bartter syndrome)Chondrocalcinosis in adulthood (long-term hypomagnesaemia)
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Before you apply
Things trial teams commonly ask about for Gitelman Syndrome. Not eligibility rules; those are set by each study.
- SLC12A3 biallelic mutation confirmation is the gold standard for diagnosis; clinical biochemistry alone (hypokalaemia, hypomagnesaemia, hypocalciuria) supports but does not confirm eligibility for genetic trials.
- Baseline electrolyte levels on current supplementation must be characterised; some trials require a defined wash-out period from potassium or magnesium supplements before screening.
- Chondrocalcinosis assessment may be required for trials evaluating long-term hypomagnesaemia complications; include joint imaging if clinically indicated.
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).