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

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.

Study Overview

• Status: Recruiting
• Conditions: Aortic Dissection; Family Research; Aortic Dissection, Familial, With or Without Aortic Aneurysm
• Intervention / Treatment: Genetic: movement

• Study Type: Observational
• Enrollment (Anticipated): 100

Contacts and Locations

• Study Contact: Name: Jing Zaiping, professor; Phone Number: 02131161670; Email: xueguanky@163.com

Study Locations

• China
  • Shanghai
    • Shanghai, Shanghai, China, 200433
      • Recruiting
      • ChanghaiHospital
      • Contact: Jing Zaiping, MD; Phone Number: 61670; Email: xueguanky@163.com

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: Yes
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

1, family members have no traumatic aortic dissection; 2, no pregnancy or tumor.

Description

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 Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
gege	Discovery of known or unknown genes	2023

Collaborators and Investigators

• Sponsor: Chinese Medical Association

Study record dates

Study Major Dates

• Study Start (Anticipated): June 17, 2020
• Primary Completion (Anticipated): June 17, 2023
• Study Completion (Anticipated): July 17, 2023

Study Registration Dates

• First Submitted: June 17, 2020
• First Submitted That Met QC Criteria: June 17, 2020
• First Posted (Actual): June 19, 2020

Study Record Updates

• Last Update Posted (Actual): June 19, 2020
• Last Update Submitted That Met QC Criteria: June 17, 2020
• Last Verified: June 1, 2020

More Information

Terms related to this study

• Keywords: aortic dissection; pathogenesis; susceptibility gene; familial inheritance
• Additional Relevant MeSH Terms: Pathologic Processes; Cardiovascular Diseases; Vascular Diseases; Disease Attributes; Aortic Diseases; Disease Susceptibility; Aneurysm; Aneurysm, Dissecting; Aortic Aneurysm
• Other Study ID Numbers: https://orcid.org/0000-0002-05

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No