Study on Susceptibility Genes and Pathogenic Mechanism of Non-syndromic Familial Aortic Dissection

• Conditions: Aortic Dissection, Familial, With or Without Aortic Aneurysm; Family Research; Aortic Dissection

• Registration Number: NCT04439565
• Lead Sponsor: Chinese Medical Association

Brief Summary

Aortic dissection is dangerous and difficult to predict, so it is particularly important to carry out early prevention, diagnosis and rational treatment for high-risk groups. The related genes found in previous studies can not be detected in all patients with dissection; at present, the pathogenesis of non-syndromic aortic dissection is not clear, of which about 20% of patients have family aggregation and have the general representative characteristics of non-syndromic dissection. In this project, the peripheral blood samples of core family subjects were detected by sequencing technique. analyze disease-related susceptibility genes; 2 determine the effect of susceptibility genes on the incidence of dissection in mice through animal experiments; and 3 explore the effect of susceptibility genes on cell function at the cellular level.

Detailed Description

Not available

Study Timeline

• Status Verified: 2020-06
• Study Start: 2020-06-17
• Study First Submitted: 2020-06-17
• Study First Submitted QC: 2020-06-17
• Last Update Submitted: 2020-06-17
• Study First Posted: 2020-06-19
• Last Update Posted: 2020-06-19
• Primary Completion: 2023-06-17
• Study Completion: 2023-07-17

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 100

Inclusion Criteria

• Family inclusion criteria: 1 at least one person in each generation of a family has aortic dissection, and at least two generations of members can be included;

Exclusion Criteria

• Pedigree exclusion criteria: pedigree members have marfan syndrome, Loeys-Dietz syndrome, Ehler-Danlos syndrome, aneurysm-Osteoarthritis syndrome and other syndroms

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
gege	2023	Discovery of known or unknown genes

Trial Locations

Locations (1)

Changhaihospital; 🇨🇳 Shanghai, Shanghai, China