Marfan SyndromeLIMA INCT04776668
Living With Marfan Syndrome and Your Aorta
An observational study of Marfan Syndrome and Marfan Syndrome Cardiovascular Manifestations, run by Barts & The London NHS Trust at 1 site in United Kingdom.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 to 120 years
- Conditions the study is for
- Marfan Syndrome, Marfan Syndrome Cardiovascular Manifestations
- How many people
- 75 participants
- Where
- 1 siteUnited Kingdom
- Study dates
- 5 Oct 2021to 22 Aug 2023
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 120 years
- All sexes
- No healthy volunteers
- Adult, Older adult
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.
Who may be able to join
- >/= 18 years old;
- have validated diagnosis of MFS (using revised Ghent criteria);
- diagnosed with aorto-vascular manifestations
Who cannot join
- <18years old
- Unable or unwilling to give written informed consent.
- Inability to understand written and/or verbal English
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Living With Marfan Syndrome I: the Psychosocial and Health-related Quality of Life Effects of the Diagnosis for Aorto-vascular Manifestations (LIMA I Study)
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.
Read the detailed description
Marfan Syndrome (MFS) is a rare autosomal-dominant connective tissue disorder with pleiotropic manifestations primarily affecting the skeletal, ocular, and cardiovascular systems. 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, requiring lifelong cardiac surveillance. Since diagnosis is made on average at 19 years old and life expectancy has increased considerably from 32 years in the 1970s, to 41 years in the 1990s and is now comparable to the general population (with the introduction of prophylactic aortic surgery), MFS patients have to live knowing that at least one major heart surgery is required in the patients' lifetime. Further, from the researchers' clinical experience, not all individuals with MFS perceived their cardiovascular conditions as treatable. Hence, the impact of knowing that they have aortovascular manifestations may be more striking than in other age and sex-matched cardiac surgical population. To date, there is still no available study assessing the impact of this diagnosis on the health-related quality of life (HRQoL) and psychosocial aspect of MFS patients.
The overarching aim of the study is to explore the psychosocial and HRQoL effects of the diagnosis for aorto-vascular manifestations of MFS in three large UK cardiac centres. This will be achieved using a mixed-method approach consisting of two studies. Study 1 (S1) is a quantitative observational exploratory study while Study 2 (S2) is a qualitative exploratory study using semi-structured interviews to identify factors important to patients that are not captured in the questionnaires used in S1. Potential participants will be recruited from the aortopathy clinic. HRQoL and psychosocial factors will be determined and quantified using validated questionnaires which will be delivered either in paper or electronic format, depending on participants' preference.
The outcome of the study will contribute to the UK and international evidence-base on the HRQoL and psychosocial impact of the diagnosis of aortovascular manifestations on MFS patients. The result will also be useful to better understand the condition and potentially guide the researchers in devising a patient care pathway that includes this aspect of care as well as develop a holistic and comprehensive service for this patient group.
- Medical subject headings
- Marfan Syndrome
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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.
Measured: 24 hours after consent is obtained
Secondary outcomes (5)
Psychosocial factor: depression
Depression will be measured using Centre for Epidemiological Studies Depression Scale (CES-D). The overall score ranges from 0 to 60, with higher scores indicating a more severe depressive symptoms. In general population, a cut-off score of 16 or above is used to identify those with significant clinical signs of depression.
Measured: 24 hours after consent is obtained
Psychosocial factor: fatigue
Fatigue will be determined using Fatigue Severity Scale (FSS). The minimum possible score is 9 and maximum possible score is 63. Higher score indicates greater fatigue severity.
Measured: 24 hours after consent is obtained
Psychosocial factor: stigma
Stigma will be measured using Perceived Stigma Questionnaire (PSQ). PSQ is composed of 4 sub-scales. Score on each sub-scale ranges from 1 to 6. Mean scores of >/= 2.0 on the devaluation and discrimination sub-scale indicates feeling of discriminated against or devalued. Mean scores of </= 3.5 on the withdrawal and secrecy sub-scales and </= 2.0 on the education sub-scale indicates the use of secrecy / withdrawal and education as coping styles, respectively.
Measured: 24 hours after consent is obtained
Psychosocial factor: self esteem
Self-esteem will be measured using Rosenberg Self-esteem Scale (RSS); score ranges from 10 (min) -40 (max); higher score indicates higher self-esteem.
Measured: 24 hours after consent is obtained
Psychosocial factors: pain and illness perception
Pain and Illness Perception will be determined using Illness Perception Questionnaire (IPQ). IPQ is divided into 5 components. The identity component is scored by summing the number of items identified at 'occasionally' or greater resulting to a total score ranging from 0 to 12 for the core list. The four other components are presented in mixed order and can be rated using a 5-point Likert scale ranging from 'strongly disagree' (1) to 'strongly agree (5).
Measured: 24 hours after consent is obtained
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Mar 2021
- Study start5 Oct 2021
- Primary completion22 Aug 2023
- Study completion22 Aug 2023
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Marfan SyndromeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Enrolment
- 75 participants (actual)
Sponsor and investigators
- Lead sponsor
- Barts & The London NHS Trust
- Sponsor type
- University, hospital or other
- Collaborators
- Liverpool Heart and Chest Hospital NHS Foundation Trust, Aortic Dissection Awareness UK & Ireland.
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04776668
- Sponsor's protocol ID
- 286206
- Acronym
- LIMA I
- Status last verified
- Apr 2024
- First submitted
- 18 Feb 2021
- Last updated
- 10 Apr 2024
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 10 Apr 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Living With Marfan Syndrome I: the Psychosocial and Health-related Quality of Life Effects of the Diagnosis for Aorto-vascular Manifestations (LIMA I Study)
- ClinicalTrials.gov ID
- NCT04776668
- Acronym / sponsor ID
- LIMA I / 286206
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 75 participants (actual)
- Lead sponsor
- Barts & The London NHS TrustUniversity, hospital or other
- Collaborators
- Liverpool Heart and Chest Hospital NHS Foundation Trust, Aortic Dissection Awareness UK & Ireland.
- Study start
- 5 Oct 2021 (actual)
- Primary completion
- 22 Aug 2023 (actual)
- Study completion
- 22 Aug 2023 (actual)
- First posted
- 2 Mar 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
Marfan Syndrome (MFS) is a rare autosomal-dominant connective tissue disorder with pleiotropic manifestations primarily affecting the skeletal, ocular, and cardiovascular systems. 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, requiring lifelong cardiac surveillance. Since diagnosis is made on average at 19 years old and life expectancy has increased considerably from 32 years in the 1970s, to 41 years in the 1990s and is now comparable to the general population (with the introduction of prophylactic aortic surgery), MFS patients have to live knowing that at least one major heart surgery is required in the patients' lifetime. Further, from the researchers' clinical experience, not all individuals with MFS perceived their cardiovascular conditions as treatable. Hence, the impact of knowing that they have aortovascular manifestations may be more striking than in other age and sex-matched cardiac surgical population. To date, there is still no available study assessing the impact of this diagnosis on the health-related quality of life (HRQoL) and psychosocial aspect of MFS patients.
The overarching aim of the study is to explore the psychosocial and HRQoL effects of the diagnosis for aorto-vascular manifestations of MFS in three large UK cardiac centres. This will be achieved using a mixed-method approach consisting of two studies. Study 1 (S1) is a quantitative observational exploratory study while Study 2 (S2) is a qualitative exploratory study using semi-structured interviews to identify factors important to patients that are not captured in the questionnaires used in S1. Potential participants will be recruited from the aortopathy clinic. HRQoL and psychosocial factors will be determined and quantified using validated questionnaires which will be delivered either in paper or electronic format, depending on participants' preference.
The outcome of the study will contribute to the UK and international evidence-base on the HRQoL and psychosocial impact of the diagnosis of aortovascular manifestations on MFS patients. The result will also be useful to better understand the condition and potentially guide the researchers in devising a patient care pathway that includes this aspect of care as well as develop a holistic and comprehensive service for this patient group.
Study design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
Who may qualify
- Ages
- 18 to 120 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- 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.
Key inclusion criteria (3 listed)
- >/= 18 years old;
- have validated diagnosis of MFS (using revised Ghent criteria);
- diagnosed with aorto-vascular manifestations
Key exclusion criteria (3 listed)
- <18years old
- Unable or unwilling to give written informed consent.
- Inability to understand written and/or verbal English
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Health-related Quality of Life (HRQoL)
Time frame: 24 hours after consent is obtained
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.
Health-related Quality of Life (HRQoL)
Time frame: 24 hours after consent is obtained
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.
5 secondary outcomes
Psychosocial factor: depression
Time frame: 24 hours after consent is obtained
Psychosocial factor: fatigue
Time frame: 24 hours after consent is obtained
Psychosocial factor: stigma
Time frame: 24 hours after consent is obtained
Psychosocial factor: self esteem
Time frame: 24 hours after consent is obtained
Psychosocial factors: pain and illness perception
Time frame: 24 hours after consent is obtained
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 10 Apr 2024.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Marfan Syndrome and Marfan Syndrome Cardiovascular Manifestations, run by Barts & The London NHS Trust at 1 site in United Kingdom.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 10 Apr 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United Kingdom. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Health-related Quality of Life (HRQoL) (time frame: 24 hours after consent is obtained). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 10 Apr 2024.