Trial record 1 of 1 for:    "Liddle syndrome"
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The Chinese Mutation Hotspot of ENaC Causing Liddle's Syndrome and the Association of ENaC Variations and Hypertension

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00448162
Recruitment Status : Suspended (no enough fund)
First Posted : March 16, 2007
Last Update Posted : March 31, 2011
Information provided by:
Peking Union Medical College

Brief 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.

Condition or disease

Study Type : Observational
Estimated Enrollment : 2000 participants
Observational Model: Cohort
Time Perspective: Cross-Sectional
Study Start Date : May 2005
Study Completion Date : December 2009

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Information from the National Library of Medicine

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Ages Eligible for Study:   8 Years to 70 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   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:

  • Hypertension caused by other single gene mutation

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00448162

China, Beijing
FuWai Hospital
Beijing, Beijing, China, 100037
Sponsors and Collaborators
Peking Union Medical College
Study Director: Rutai Hui, PhD, MD Key Laboratory for Clinical Cardiovascular Genetics, Ministry of Education, China & Sino-German Laboratory for Molecular Medicine,

Responsible Party: Rutai Hui, Fuwai Hospital Identifier: NCT00448162     History of Changes
Other Study ID Numbers: SGL-032-01
First Posted: March 16, 2007    Key Record Dates
Last Update Posted: March 31, 2011
Last Verified: May 2009

Keywords provided by Peking Union Medical College:
hypertension, ENaC, Liddle's syndrome, variation

Additional relevant MeSH terms:
Liddle Syndrome
Vascular Diseases
Cardiovascular Diseases
Renal Tubular Transport, Inborn Errors
Kidney Diseases
Urologic Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases