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

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ClinicalTrials.gov Identifier: NCT00448162
Recruitment Status : Suspended (no enough fund)
First Posted : March 16, 2007
Last Update Posted : March 31, 2011
Sponsor:
Information provided by:
Peking Union Medical College

March 15, 2007
March 16, 2007
March 31, 2011
May 2005
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Complete list of historical versions of study NCT00448162 on ClinicalTrials.gov Archive Site
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The Chinese Mutation Hotspot of ENaC Causing Liddle's Syndrome and the Association of ENaC Variations and Hypertension
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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.

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Observational
Observational Model: Cohort
Time Perspective: Cross-Sectional
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Non-Probability Sample
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.
Hypertension
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*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Suspended
2000
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December 2009
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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
Sexes Eligible for Study: All
8 Years to 70 Years   (Child, Adult, Older Adult)
Yes
Contact information is only displayed when the study is recruiting subjects
China
 
 
NCT00448162
SGL-032-01
Yes
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Rutai Hui, Fuwai Hospital
Peking Union Medical College
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Study Director: Rutai Hui, PhD, MD Key Laboratory for Clinical Cardiovascular Genetics, Ministry of Education, China & Sino-German Laboratory for Molecular Medicine,
Peking Union Medical College
May 2009