A Study to Evaluate the Feasibility of Screening Relatives of Patients Affected by Non-Syndromic Thoracic Aortic Diseases: The ReST Study
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Screening
- Sponsor
- University of Leicester
- Enrollment
- 70
- Locations
- 1
- Primary Endpoint
- Rate of genetic diagnosis
- Last Updated
- 5 years ago
Overview
Brief 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.
Detailed Description
Diseases involving the thoracic aorta (the major artery in the body) are a major health problem affecting an increasing number of people worldwide. In particular, a group of these conditions termed Non-Syndromic Aortic Diseases (NS-TAD), can develop without any obvious symptoms or external features which prevents early identification. Unfortunately, if not treated, the aorta may enlarge and lead to dissection, a life-threatening medical emergency. For this reason, the investigators believe it might be helpful to investigate relatives of patients undergoing surgery for thoracic aortic disease to understand if there are tests that could help identify and treat this condition at the right time. Therefore the investigators propose to conduct a feasibility study to identify the practical issues and challenges that would need to be overcome in order to perform a successful tailored genetic (by collecting a small blood sample) and imaging (with exams such as echocardiography and MRI) screening in such population of individuals. Moreover, all participants will receive two questionnaires to ask their opinion about the study and to measure their levels of anxiety and depression, to judge whether and how this study has affected their emotional status. The study will be carried out at the Department of Cardiovascular Sciences Glenfield Hospital, University Hospitals of Leicester NHS Trust.
Investigators
Eligibility Criteria
Inclusion Criteria
- •NS-TAD probands operated on (n=16).
- •FDR and SDR, aged 16 and above:
- •At least two relatives willing to participate in the screening programme.
- •Relatives able to understand English.
Exclusion Criteria
- •Probands with syndromic aortopathies, including Marfan Syndrome, Loeys-Dietz Syndrome, Ehlers-Danlos Syndrome, Shprintzen-Goldberg syndrome, aneurysm-osteoarthritis syndrome, arterial tortuosity syndrome, and cutis laxa syndrome.
- •Probands with aortic lesions associated with trauma and infections.
- •Probands/relatives unable to give informed consent
Outcomes
Primary Outcomes
Rate of genetic diagnosis
Time Frame: Through study completion, an average of 1 year
Frequency of first and second degree relatives with newly identified genetic loci associated with NS-TADs.
Rate of diagnosis through imaging modalities
Time Frame: At the end of recruitment stage, an average of 6 months
Frequency of newly diagnosed TAD through imaging modalities in first- and second-degree relatives of probands affected by NS-TADs.
Secondary Outcomes
- Penetrance(Through study completion, an average of 1 year)
- Mode of inheritance(Through study completion, an average of 1 year)
- Aortic Distensibility(Imaging tests completion, an average of 6 months.)
- Rates of concomitant external and cardiovascular characteristics(Baseline clinical assessment)
- Male: female preponderance(Through study completion, an average of 1 year)
- Health-related Quality of Life evaluation(Baseline and 3 months follow up)
- Resource use (hospital visits)(3 months follow up)
- Genetic variants(Through study completion, an average of 1 year)
- Family rate of genetic carriers(Through study completion, an average of 1 year)
- Aortic Compliance(Imaging tests completion, an average of 6 months.)
- Response rate(Baseline clinical assessment)
- Acceptability questionnaires(Baseline and 3 months follow up)
- Depression evaluation(Baseline and 3 months follow up)
- Anxiety evaluation(Baseline and 3 months follow up)
- Resource use of genetic screening(3 months follow up)
- Resource use of imaging screening(3 months follow up)