Suspended

The Chinese Mutation Hotspot of ENaC Causing Liddle's Syndrome and the Association of ENaC Variations and Hypertension

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What is being collected

Data Collection

Collected at a single point in time - Cross-sectional
Who is being recruted

Urogenital Diseases+10

+ Cardiovascular Diseases

+ Female Urogenital Diseases and Pregnancy Complications

From 8 to 70 Years
+3 Eligibility Criteria
See all eligibility criteria
How is the trial designed

Cohort

Tracking disease incidence in order to identify risk factors and understand disease progression over time.
Observational
Study Start: May 2005
See protocol details

Summary

Principal SponsorPeking Union Medical College
Last updated: January 27, 2026
Sourced from a government-validated database.Claim as a partner

Study start date: May 1, 2005

Actual date on which the first participant was enrolled.

The variations of ENaC have an impact on the degradation of epithelial sodium channels and sodium reabsorption, and thus are associated with hypertension and hypokalemia. Liddle's syndrome is a rare monogenic form of autosomal-dominant hypertension caused by truncating or missense mutations in the C-termini of epithelial sodium channel β- or γ-subunit encoded by SCNN1B or SCNN1G. Our purpose is to determine the hotspot of mutation causing Chinese Liddle's syndrome. The second purpose is to determine wether the polymorphisms of ENaC are associated with hypertension in Chinese. Some polymorphisms of ENaC associated with hypertension may be genetic risk factors for Chinese hypertension.

Official TitleThe Chinese Mutation Hotspot of ENaC Causing Liddle's Syndrome and the Association of ENaC Variations and Hypertension
NCT00448162
Principal SponsorPeking Union Medical College
Last updated: January 27, 2026
Sourced from a government-validated database.Claim as a partner

Protocol

This section provides details of the study plan, including how the study is designed and what the study is measuring.
Design Details

2000 patients to be enrolled

Total number of participants that the clinical trial aims to recruit.

Cohort

These studies follow a group of individuals with common characteristics (such as a condition or birth year) over a specific period to study health outcomes or exposures.

Eligibility

Researchers look for people who fit a certain description, called eligibility criteria: person's general health condition or prior treatments.
Conditions
Criteria

Any sex

Biological sex of participants that are eligible to enroll.

From 8 to 70 Years

Range of ages for which participants are eligible to join.

Healthy volunteers allowed

If individuals who are healthy and do not have the condition being studied can participate.

Conditions

Pathology

Urogenital DiseasesCardiovascular DiseasesFemale Urogenital Diseases and Pregnancy ComplicationsHypertensionKidney DiseasesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesUrologic DiseasesVascular DiseasesRenal Tubular Transport, Inborn ErrorsGenetic Diseases, InbornFemale Urogenital DiseasesMale Urogenital DiseasesLiddle Syndrome

Criteria

2 inclusion criteria required to participate
Clinical diagnosis of hypertension and Liddle's syndrome
Clinical diagnosis of normal controls with no cardiovascular disease
1 exclusion criteria prevent from participating
Hypertension caused by other single gene mutation

Study Centers

These are the hospitals, clinics, or research facilities where the trial is being conducted. You can find the location closest to you and its status.

This study has 1 location

Suspended

FuWai Hospital

Beijing, ChinaOpen FuWai Hospital in Google Maps
SuspendedOne Study Center