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

Hypertension Clinical Trial

Clinical Trial Details — Status: Suspended

Administrative data

• NCT number: NCT00448162
• Other study ID #: SGL-032-01
• Status: Suspended
• Phase: N/A
• First received: March 15, 2007
• Last updated: March 30, 2011
• Start date: May 2005
• Est. completion date: December 2009

Study information

• Verified date: May 2009
• Source: Peking Union Medical College
• Contact: n/a
• Is FDA regulated: No
• Health authority: China: Ministry of Health
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Suspended
• Enrollment: 2000
• Est. completion date: December 2009
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: Both
• Age group: 8 Years to 70 Years

Eligibility

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 Design

Observational Model: Cohort, Time Perspective: Cross-Sectional

Related Conditions & MeSH terms

• Hypertension

Locations

Country	Name	City	State
China	FuWai Hospital	Beijing	Beijing

Sponsors (1)

Lead Sponsor	Collaborator
Peking Union Medical College

Country where clinical trial is conducted

China,