Gene testing of Gitelman syndrome

Gene testing of Gitelman syndrome - DNA analysis of SLC12A3 mutation with patients suspected of Gitelman syndrome and their families.

Status

Recruiting

Phases

Unknown

Study type

Interventional

Source

JPRN

Registry ID

JPRN-UMIN000007374

Enrollment

Registered

2012-02-24

Start date

2012-02-01

Completion date

Unknown

Last updated

2026-06-29

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Gitelman syndrome

Interventions

collection of 5ml of peripheral blood

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: clinically suspected patients and their family

Exclusion criteria

Exclusion criteria: if the patients or their families refuse this test.

Design outcomes

Primary

Measure	Time frame
To detect the mutations involve the SLC12A3 gene, which encodes the thiazide-sensitive NaCl cotransporter (NCC).	—

Countries

Japan

Contacts

Public ContactMidori Kakimoto

Yokohama City University Department of Medical Science and Cardiorenal Medicine

045-787-2800

Outcome results

None listed

Source: JPRN (via WHO ICTRP) · Data processed: Jul 3, 2026