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Marfan Syndrome clinical trials

View clinical trials related to Marfan Syndrome.

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NCT ID: NCT06257004 Recruiting - Marfan Syndrome Clinical Trials

Genome-wide Epistasis for Cardiovascular Severity in Marfan Study

GEMS
Start date: November 30, 2020
Phase:
Study type: Observational

Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder with pleiotropic manifestations in the ocular, skeletal and cardiovascular systems. Morbidity and mortality are mostly determined by aortic root aneurysm dissection and rupture. Although mutations in FBN1, the gene coding for the extracellular matrix protein fibrillin-1, are the well-established genetic cause of this condition, there is a very poor correlation between the nature or location of the causal FBN1 mutation and the phenotypical outcome. Indeed, wide intra- and interfamilial phenotypical variability is observed. So, even with an identical primary mutation in all family members, the clinical spectrum varies widely, from completely asymptomatic to sudden death due to aortic dissection at a young age. The precise mechanisms underlying this variability remain largely elusive. Consequently, a better understanding of the functional effects of the primary mutation is highly needed and the identification of genetic variation that modifies these effects is becoming increasingly important. In this project, we have carefully selected different innovative strategies to discover mother nature's own modifying capabilities with respect to Marfan syndrome aortopathy.

NCT ID: NCT05944614 Recruiting - Marfan Syndrome Clinical Trials

Towards Optimal Treatment of Marfan Syndrome

TOWER
Start date: February 23, 2023
Phase:
Study type: Observational

The purpose of this study is to determine whether new magnetic resonance imaging techniques can be used as a biomarker of aortic disease severity in patients with Marfan syndrome.

NCT ID: NCT05809323 Recruiting - Marfan Syndrome Clinical Trials

Marfan Syndrome Moderate Exercise Trial II

Start date: September 1, 2023
Phase: N/A
Study type: Interventional

Marfan syndrome (MFS) is a distinctive connective tissue disorder that affects multiple organ systems including the heart, bones, ligaments, and eyes, and is associated with significant risk of aortic dissection. Given limited evidence from in-vitro studies, and theoretical concerns, the majority of patients with MFS are restricted from certain physical activities. The lack of exercise and deconditioning have detrimental effects including increasing weakness, joint pain, decreased endurance, and depressive symptoms. Given the significant paucity of data currently existing on the effects of exercise in humans with MFS, and the recent, optimistic findings in rodent models, this pilot trial was established to assess the effects of moderated dynamic exercise in adolescents and young adults with MFS.

NCT ID: NCT05748314 Recruiting - Rare Diseases Clinical Trials

Marfan Syndrome and Quality of Life of Pediatric Patients

MarfanPed
Start date: January 9, 2023
Phase:
Study type: Observational

The goal of this observational study is to learn about the impact of Marfan syndrome (MFS) in paediatric affected subjects. the main questions it aims to answer are: - The assessment of quality of life in MFS Italian patients; - The impact of phenotypic manifestations on self-image and self-management skills; - Stratify patients according to the need of psychological support. Participants will take part in the study by completing four self-report questionnaires.

NCT ID: NCT05720923 Recruiting - Rare Diseases Clinical Trials

Analysis of Muscular Properties in Patients With MFS and EDS

MUSCLE
Start date: February 15, 2023
Phase:
Study type: Observational

The goal of this observational study is to learn and assess muscle morphological and electromechanical properties in patients affected with Marfan syndrome (MFS) and Ehlers Danlos syndrome (EDS). the main questions it aims to answer are: - To assess the ability to develop muscle strength; - Muscle and tendon morphology involved in muscle contractions/relaxation; - Neuromuscular functionality. Participants will be take part in the study by performing a test for the assessment of the neuromuscular activity (voluntary muscle contractions) and undergoing a muscle ultrasound for the study of muscles and tendons. Researchers will compare the two groups with a control group to see potential differences in the morphological and neuromuscular structures of syndromic patients.

NCT ID: NCT05712577 Recruiting - Rare Diseases Clinical Trials

Psychological Support in Adult Patients With Marfan Syndrome

MARFANPSY
Start date: January 9, 2023
Phase:
Study type: Observational

The goal of this observational study is to identify key factors leading to psychotherapy or psychological support in adult subjects with Marfan syndrome (MSF). the main questions it aims to answer are: - Understand and define which internal variables of the individual drive this request for psychological support; - To learn about verify the impact that the clinical manifestations of MSF have on psychosocial aspects, self-esteem, subjective perception of the disease and coping mechanisms.

NCT ID: NCT05702476 Recruiting - Rare Diseases Clinical Trials

Marfan Syndrome (MFS) and Facial Dysmorphism: Non-invasive 3D Assessment

FACE
Start date: January 9, 2023
Phase:
Study type: Observational

The goal of this study observational prospective study is to define the facial morphological features associated with Marfan syndrome (MFS). The main qustion it aims to answer are: 1. To describe the facial morphological features associated with MFS and their evolution over time; 2. To study the association between facial morphology and the features of reference for the diagnosis of MFS.

NCT ID: NCT05700175 Recruiting - Marfan Syndrome Clinical Trials

Transcriptomic Study of Adult Population With Marfan Syndrome

MaRfaNomicA
Start date: November 2, 2021
Phase:
Study type: Observational

This project is designed to discover circulating biomarkers for aortic aneurysms in adults affected by Marfan Syndrome (MFS). The first aim is to identify circulating transcripts, protein-coding (mRNA) and not (ncRNAs), which show differential expression between three groups of adult patients affected by MFS, based on: presence or absence of thoracic aortic aneurysms (TAA) and indication of TAA-surgery. This obtained TAA_MFS_signature will then be correlated to fundamental biological parameters, like cytokines and chemokines relevant during inflammation and transcriptomic as well as epigenetics changes in aortic aneurysm tissue. Furthermore, the association of TAA_MFS_signature to genetic, clinical and instrumental parameters at present used for diagnosis and treatment, will be evaluated.

NCT ID: NCT04970459 Recruiting - Marfan Syndrome Clinical Trials

Biological Collection for Marfan and Related Syndromes

MARFANS
Start date: January 24, 2022
Phase:
Study type: Observational

The present study will establish a collection of biological samples from Marfan patients or with associated diseases to be used for research purposes only, with due respect for confidentiality.

NCT ID: NCT04776681 Recruiting - Marfan Syndrome Clinical Trials

Living With Marfans and Your Aorta: Surgical Outcomes Study

LIMA II
Start date: July 26, 2021
Phase:
Study type: Observational

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. Living with a diagnosis of Marfan Syndrome, including undergoing and recovering from heart surgery, 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 to help improve the MFS patients' mental health, well-being and quality of life after heart surgery. The study will include adult MFS patients who are undergoing aorto-vascular surgery. The overall aim of the study is to explore the psychosocial and health-related quality of life (HRQoL) effects of the surgical interventions 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 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). Participants will be asked to complete the questionnaires before surgery and at various time points after surgery (at 6 weeks after hospital discharge and at 6 and 12 months after surgery). The research team will also collect in-hospital post-operative morbidity burden following aorto-vascular surgery using cardiac post-operative morbidity score (C-POMS) tool from the patients and clinical records. The association of C-POMS with psychosocial and HRQoL outcomes will also be examined.