View clinical trials related to Marfan Syndrome.
Filter by: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.
Empowered Relief (ER) is a 1-session pain relief skills intervention that is delivered in-person or online by certified clinicians to groups of patients with acute or chronic pain. Prior work in has shown ER efficacy for reducing chronic pain, pain-related distress, and other symptoms 6 months post-treatment. The purpose of this study is to conduct the first feasibility and early efficacy test of online ER (two hours total treatment time) delivered to individuals with Marfan syndrome, Vascular Ehlers-Danlos Syndrome, Loeys-Dietz Syndrome, and related conditions. Participants will be followed for 3 months via 5 follow-up surveys.
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.
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.
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.
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.
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.
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.
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.
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.