A Study to Evaluate the Feasibility of Screening Relatives of Patients Affected by Non-Syndromic Thoracic Aortic Diseases

Summary

The primary hypothesis is that a tailored programme of genetic and imaging screening of first- and second-degree relatives of patients affected by non-syndromic forms of thoracic aortic diseases will identify individuals at risk of death from these conditions. These individuals would constitute specific population of patients, requiring dedicated imaging surveillance and/or earlier prophylactic aortic surgery.

Conditions

• Screening
• Aortic Aneurysm and Dissection
• Genetic Disease

Interventions

GENETIC

WES

A peripheral venous blood sample will be processed internally, and externally subjected to WES. Only genetic material from relatives of probands in which a mutation has been identified will be sequenced.

DIAGNOSTIC_TEST

MRI

A MRI of the thoracic aorta will be performed in all relatives able to attend the Glenfield Hospital and who have no contra-indications to this imaging modality; pulse-wave velocity will be recorded.

DIAGNOSTIC_TEST

TTE

TTE screening will be performed by a trained physiologist. Aortic diameter will be measured from the parasternal long-axis view at the sinuses of Valsalva and at the widest level of the ascending aorta. All measurements will be made in end-diastole.

OTHER

Questionnaire

Acceptability questionnaires will be submitted to assess a baseline score of depression/anxiety that will be compared with a follow up value at three months

Sponsors & Collaborators

• University of Leicester

  lead OTHER

Principal Investigators

• Gavin J Murphy, Prof · University of Leicester

• Giovanni Mariscalco, Prof · University of Leicester

Study Design

Allocation

NA

Purpose

PREVENTION

Masking

NONE

Model

SINGLE_GROUP

Eligibility

Min Age

16 Years

Sex

ALL

Healthy Volunteers

Yes

Timeline & Regulatory

Start

2019-03-01

Primary Completion

2022-05-20

Completion

2022-05-20

Countries

• United Kingdom

Study Locations