View clinical trials related to Marfan Syndrome.
Filter by: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.
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.
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.
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. Improvement in diagnostics and medical and surgical interventions have increased life expectancy. However, the natural history and the influence of medical or surgical interventions in the UK population are not fully described. Further, the incidence of aortovascular surgery in this patient group is unknown as MFS is not routinely documented in the National Institute of Cardiovascular Outcome Research (NICOR) national cardiac surgery dataset and therefore, there is currently no mechanism for exploring the aortovascular outcomes for this patient group. The investigators aim to undertake a 10-year secondary analysis of linked national data (National Institute of Cardiovascular Outcome Research (NICOR), Office of National Statistics (ONS), Hospital Episode Statistics (HES)) to identify the UK incidence and outcome of aorto-vascular surgery in patients with Marfan syndrome (MFS). This includes associated hospital length of stay, mortality and morbidity rates. Understanding mortality alongside morbidity will allow the investigators to study further the burdens that the aortovascular manifestations may place on MFS population as well as to continuously evaluate the efficacy of either the health care system or an implemented intervention in place. Further, these metrics will be useful for the stakeholders to effectively prioritise which complications to tackle and to allocate resources toward as well as proactively manage the potential onset of a health event
This is a before-after, observational, prospective, multicenter cohort study. The study will consist of 2 phases: an initial observational phase of a minimum of 3 months before the Therapeutic Education Program (TEP) intervention, then a phase of evolution analysis of at least 3 months.
Marfan syndrome (MFS) 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.
Chromosome 22q11.2 deletion syndrome (22q11DS) is a neurogenetic condition associated with a high risk of psychiatric disorders, including schizophrenia spectrum disorders. This population is characterized by a particular neurocognitive profile and atypical brain development. Risperidone is a second-generation antipsychotic, inhibitor of dopaminergic receptors. Used in the treatment of psychosis, risperidone is frequently prescribed in 22q11DS, for example to treat a psychotic episode. Research on an animal model of 22q11DS (LgDel+/- mice) shows that administering an antipsychotic for 12 days during a critical period of brain development (adolescence) prevents deleterious neuronal changes and improves behavioral performance in mice. The aim of this study is therefore to replicate the results found in mice and to identify a long-term neuroprotective effect. This study is inspired on the one hand by the families who share with us the difficulties of individuals affected by 22q11DS on a daily basis, but also by the encouraging results of studies conducted on mice.
Marfan syndrome (MS) is an autosomal dominant genetic disorder caused by a mutation in the fibrillin-1 gene (FBN1) encoding the protein fibrillin-1. Fibrillin is the main component of microfibrils, elements found in all of the body's tissues, and this pathology is characterized by the multitude of its clinical manifestations. These patients may develop aneurysms in the aortic root and one of the main factors of morbidity in patients with MS is aortic dissection. Prevention mainly involves preventive aortic surgery. However, the repercussions are global and can affect the functioning of other tissues such as skeletal muscle tissue, bone tissue, lung tissue and the eyes. The association of skeletal (scoliosis, hyperlaxity), muscular and ocular disorders is clearly associated with an impairment in the quality of life. These disorders are associated with pain and disability which affect professional activity, leisure and family life. Physical activity could represent a relevant alternative for these patients. A recent animal study suggests that moderate training is beneficial.
The study ARITH22 will investigate the role of visuo-spatial attention on arithmetic abilities of children with 22q11.2 deletion syndrome.
Marfan syndrome is characterized by musculoskeletal manifestations, cardiovascular disease and ocular abnormalities, particularly ectopia lentis. Diagnosis depends on clinical evaluation, family history and molecular data: mutation in the fibrillin-1 gene (FBN1). Ectopia lentis is the most common ocular manifestation in Marfan syndrome with FBN1 mutation and is relatively specific to this disease when associated with other features. However, clinical examinations for identifying ectopia lentis have not really been codified. The purpose of this study is to describe a 5-grade classification of increasing severity for ectopia lentis based on clinical examination and to evaluate the predictive value for the early grades of ectopia lentis in order to help characterize this major clinical diagnosis criterion.