Living With Marfan Syndrome and Your Aorta

NCT04776668 | Completed DMC

• 1 other identifier: 286206
• Study Type: observational
• Target: 75
• Locations: 1 country
• Sites: 1

Brief Summary

Marfan Syndrome (MFS) is a genetic disease affecting the eyes, skeleton, heart and arteries. Despite MFS affecting multiple organ systems, cardiovascular manifestations are the most serious and life threatening. Approximately 80% of adult MFS patients will have a dilated aortic root by age 40 years with aortic aneurysm and dissection the leading causes of morbidity and mortality. Thus, MFS patients require lifelong cardiac surveillance. Living with a diagnosis of Marfan Syndrome and aorto-vascular manifestations affects patients' mental health, well-being and quality of life in ways that are not well understood. This study will address the current knowledge gaps in this area and will provide the information needed to design interventions for MFS patients with aorto-vascular problems to help improve the patients' mental health, well-being and quality of life. The study will include adult MFS patients who have been diagnosed with aorto-vascular problems. The overall aim of the study is to explore the psychosocial and health-related quality of life (HRQoL) effects of the diagnosis for aorto-vascular manifestations of MFS in 3 large UK cardiac centres. To achieve this, the researchers will ask the potential participants, after obtaining informed consent, to complete a series of accepted/validated questionnaires to measure the study participants' health-related quality of life (SF-36 and EQ5D questionnaire) and psychosocial factors such as depression (CES-D questionnaire), fatigue (Fatigue Severity Scale), stigma (Perceived Stigma Questionnaire), self-esteem (Rosenberg Self-esteem Scale), pain and illness perception (Illness Perception Questionnaire). The researcher will also conduct a one-to-one semi-structured interview with some participants to identify factors important to patients that are not captured in the questionnaires used.

Conditions

Marfan Syndrome; Marfan Syndrome Cardiovascular Manifestations

Outcome Measures

Primary Outcomes (2)

• Health-related Quality of Life (HRQoL)

  HRQoL will be measured using the Short Form Health Survey 36 (SF-36). SF-36 consists of 8 sub-scales. All scales do contribute in different proportions to the scoring of the physical and mental dimensions, represented by the Physical Component Summary (PCS) and Mental Component Summary (MCS). Using an algorithm, raw scores can be converted to a transformed scale scores ranging from 0-100, with higher score indicating a better health state.

  24 hours after consent is obtained

• Health-related Quality of Life (HRQoL)

  HRQoL will be measured using EQ-5D. EQ-5D is divided into 2 components: health care description and evaluation. In the description part, summation of score ranges from 1 to 3; with 1 indicates the best health state and 3 indicates more severe or frequent problem. The evaluation part utilises a visual analogue scale to indicate the general health status with 100 indicating the best health status and 0 indicating the worst health status.

  24 hours after consent is obtained

Secondary Outcomes (5)

• Psychosocial factor: depression

  24 hours after consent is obtained

• Psychosocial factor: fatigue

  24 hours after consent is obtained

• Psychosocial factor: stigma

  24 hours after consent is obtained

• Psychosocial factor: self esteem

  24 hours after consent is obtained

• Psychosocial factors: pain and illness perception

  24 hours after consent is obtained

Eligibility Criteria

• Age: 18 Years - 120 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

All eligible consecutive patients with a diagnosis of MFS at three large UK cardiac centres will be identified from the aortopathy clinic by a member of the cardiac clinical care team.

You may qualify if:

• \>/= 18 years old;
• have validated diagnosis of MFS (using revised Ghent criteria);
• diagnosed with aorto-vascular manifestations

You may not qualify if:

• \<18years old
• Unable or unwilling to give written informed consent.
• Inability to understand written and/or verbal English

Sponsors & Collaborators

• Barts & The London NHS Trust: lead
• Liverpool Heart and Chest Hospital NHS Foundation Trust: collaborator
• Aortic Dissection Awareness UK & Ireland.: collaborator

Study Sites (1)

St Bartholomews Hospital

London, EC1A 7BE, United Kingdom

Location

MeSH Terms

Conditions

Marfan Syndrome

Condition Hierarchy (Ancestors)

Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases; Heart Defects, Congenital; Cardiovascular Abnormalities; Cardiovascular Diseases; Heart Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Connective Tissue Diseases; Skin and Connective Tissue Diseases

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 18, 2021
• First Posted: March 2, 2021
• Study Start: October 5, 2021
• Primary Completion: August 22, 2023
• Study Completion: August 22, 2023
• Last Updated: April 10, 2024

Record last verified: 2024-04

Locations

GB (1)