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SuspendedNCT00448162Updated Mar 31, 2011

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

An observational study in Hypertension, sponsored by Peking Union Medical College. Suspended at 1 site in China. Open to participants aged 8 Years to 70 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2011-03-31.

Sponsored by Peking Union Medical College · Observational

Why this study was suspended
no enough fund
Study type
Observational
Model
Cohort
Time perspective
Cross-sectional
Enrollment
2,000
Ages
8 Years to 70 Years
Sex
All
01

Study summary

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.

02

Conditions studied

  • Hypertension

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Keywords

  • hypertension, ENaC, Liddle's syndrome, variation
03

In context

Hypertension

6,689 studies on the registry are indexed under Hypertension; 965 are open to participants now.

This study's planned enrollment of 2,000 is above the median of 210 across 1,359 observational studies indexed under Hypertension.

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Lead sponsor

Peking Union Medical College is the lead sponsor of 58 studies on the registry; 17 are open to participants now.

Counted across the registry records on this site, refreshed daily.

04

Who can participate

Ages eligible
8 Years to 70 Years
Sexes eligible
All
Accepts healthy volunteers
Yes
Sampling method
Non-probability sample

Study population

Patients were defined as being hypertensive if they had systolic and/or diastolic BP levels >=140/90mm Hg on three occasions within 2 months and if they were without any antihypertensive treatment, and/or if they had been diagnosed as being hypertensive in the past and were currently receiving antihypertensive medications. The normotensive controls were defined as having systolic and/or diastolic BP levels \<130/85mm Hg and with no family history of hypertension. Patients were excluded when they had any known renal diseases or secondary hypertension.

Inclusion criteria

  • Clinical diagnosis of hypertension and Liddle's syndrome
  • Clinical diagnosis of normal controls with no cardiovascular disease

Exclusion criteria

Exclusion Criteria:

  • Hypertension caused by other single gene mutation
05

Study design

Observational model
Cohort
Time perspective
Cross-sectional
Enrollment
2,000 participants (estimated)
06

Study locations

1 site
  • FuWai Hospital
    Beijing, Beijing 100037, China
07

Updates

Tracking since Sep 25, 2026
No changes since tracking began. The registry record was last updated on Mar 31, 2011, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
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Registry details

Key details

Study ID
NCT00448162
Lead sponsor
Peking Union Medical College
First posted
Mar 16, 2007
Start date
May 2005
Completion
Dec 2009
Last update
Mar 31, 2011

Study contacts

Rutai Hui, PhD, MD
study director · Key Laboratory for Clinical Cardiovascular Genetics, Ministry of Education, China & Sino-German Laboratory for Molecular Medicine,

Oversight

Data monitoring committee
Yes
View the source record on ClinicalTrials.gov ↗

Not currently enrolling

This study is suspended, as verified in May 2009. You cannot join it, but the record below documents what was studied.

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