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

March 30, 2011 updated by: Peking Union Medical College

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.

Study Overview

Status

Suspended

Conditions

Study Type

Observational

Enrollment (Anticipated)

2000

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • China
    • Beijing
      • Beijing, Beijing, China, 100037
        • Fuwai Hospital

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

8 years to 70 years (Child, Adult, Older Adult)

Accepts Healthy Volunteers

Yes

Genders Eligible for Study

All

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.

Description

Inclusion Criteria:

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

Exclusion Criteria:

  • Hypertension caused by other single gene mutation

Study Plan

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

How is the study designed?

Design Details

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Peking Union Medical College

Investigators

  • Study Director: Rutai Hui, PhD, MD, Key Laboratory for Clinical Cardiovascular Genetics, Ministry of Education, China & Sino-German Laboratory for Molecular Medicine,

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

May 1, 2005

Study Completion

December 1, 2009

Study Registration Dates

First Submitted

March 15, 2007

First Submitted That Met QC Criteria

March 15, 2007

First Posted (Estimate)

March 16, 2007

Study Record Updates

Last Update Posted (Estimate)

March 31, 2011

Last Update Submitted That Met QC Criteria

March 30, 2011

Last Verified

May 1, 2009

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • SGL-032-01

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

Clinical Trials on Hypertension

Search Similar Trials

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in South Korea

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations

3
Subscribe