Effects of Personalized Training at Home Combining Endurance and Resistance in Patients Suffering...
Marfan SyndromeMarfan 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.
Clinical Variability in Marfan Syndrome
Marfan SyndromeMarfan syndrome is an autosomal dominant connective tissue disorder caused by mutations in the fibrillin-1 gene (FBN1). Penetrance of FBN1 mutations is complete but intra and inter familial clinical expressivity is extremely variable. The underlying mechanisms for variability are not understood. An interesting mechanism is that the expression level of the wild type and/or mutated allele may play a role in the determination of variability. Principal objective: To evaluate in Marfan patients, if FBN1 expression level (non-mutated or mutated allele) modulates the clinical expression of the disease. Judgment criteria : Correlation allelic expression level-phenotype Perspectives : To search the predictive factors of severity in order to ameliorate precocity of taking care.
Safety and Performance of POLYTHESE® Vascular Prosthesis
Aneurysm ArterialPeripheral Arterial Disease3 morePOLYTHESE® study is a retrospective, observational, multicentre, case series which examine short and long-term outcomes of using POLYTHESE®. This study will be done on Real World Data to describe the safety and performance of the device. PMCF Study.
Glucose-dependent Asprosin Dynamics
Diabetes MellitusThe study entitled " Asprosin Dynamics relating to serum Glucose levels under controlled alterations" investigates the dynamics of Asprosin in relation to glucose levels under controlled conditions in diabetic patients.
Tele-Clinic Visits in Pediatric Marfan Patients Using Parental Echo: The Future?
Marfan SyndromeMarfan syndrome (MFS), a connective tissue disorder seen in 1 in 3,000 individuals, causes progressive aortic root dilation that can result in aortic dissection and sudden death. Clinical care focuses on monitoring the aortic root by serial echocardiography (echo) to guide medical treatment and elective aortic root surgery in a specialized clinic every 6-12 months. This monitoring protocol, coupled with surgical intervention, has doubled the median life expectancy which was previously only 32 years. However, this surveillance carries significant health care costs at >$50 million dollars/year on echos alone (at $3-4K each) in children and adolescents in the US, as well as substantial burden on families residing far from specialized centers. A clinic visit delivered to MFS patients via live-video conferencing at home (tele-visit) could shift this paradigm, if a home echo could be obtained. Here, the investigator will train parents of Pediatric Marfan patients to take echo images using a hand held device, height, weight, blood pressure, medical history, and listen to the heart of their child. Then, the investigators will ask them to take the equipment home and collect the same data at home during a tele-clinic visit, with further instruction by the study team through secure live-video conferencing.
A Randomized, Open-label, LOSARTAN Therapy on the Progression of Aortic Root Dilation in Patients...
Marfan SyndromeTo assess the efficacy of angiotensin II receptor blocker, Losartan, to prevent progressive dilation of aortic root in patients with Marfan syndrome.
Classifying Ectopia Lentis in Marfan Syndrome Into Five Grades of Increasing Severity
Marfan SyndromeEctopia LentisMarfan 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.
Clinical Signs and Activity Limitations Associated With Dural Ectasia in Patients With Marfan Disease...
Marfan SyndromePrimary outcome is to compare the frequency and clinical features of spinal symptoms between Marfan patients with dural ectasia (cases) and those without (controls). / Frequency of orthostatic headaches / Frequency of low back pain due to orthostasis / Frequency of low back pain during Vasalva maneuvers / Frequency of lumbar claudication / Frequency of root claudication Secondary outcomes are to compare activity limitations, quality of life and intensity of low back and radicular pain between Marfan patients with dural sac ectasia (cases) and those without (controls). / Average intensity of back pain measured on a self-administered digital scale (0 = no pain and 100 = maximum pain) / Average intensity of radicular pain measured on a self-administered digital scale (0 = no pain and 100 = maximum pain) / Activity limitations specific to the lumbar spine measured using the self-administered Oswestry Disability Index questionnaire (ODI, 0 = no limitations and 100 = maximum limitations) / Physical component of quality of life measured using the physical component of the self-administered questionnaire 12-Item Short Form Health Survey (SF-12, 9.95 = worst quality of life imaginable, 70.02 = worst quality of life imaginable ) / Mental component of the quality of life measured using the mental component of the SF-12 self-administered questionnaire (5.89 = worst quality of life imaginable, 71.97 = worst quality of life imaginable)
Thoracic Aortic Dilatation Syndromes
Thoracic Aorta DilatationMarfan SyndromeAortic dilatation syndromes are comprised by a group of different syndromes, of which Marfan syndrome is the best described. Many of the aorta dilatation associated syndromes are heritable connective tissue disorders but some patients do not have any other phenotypical symptoms than aorta dilatation. The genetic variation in thoracic aorta dilatation is still unknown. This study aims on genetic evaluation of patients with thoracic aorta dilatation. Furthermore the study will focus on a registry angel trying to evaluate prevalence, mortality, morbidity and socioeconomically status of Marfan syndrome patients. This part will rely on registry data obtained from unique Danish registries.
Study of Heritable Connective Tissue Disorders
Connective Tissue DiseaseDissecting Aneurysm3 moreThe purposes of this study are to identify the genes responsible for inherited connective tissue disorders and learn about the range of medical problems they cause. It will investigate whether specific gene changes cause specific medical problems and will establish diagnostic criteria (signs and symptoms) for the individual syndromes. Children and adults with a known or suspected inherited connective tissue disorder (Marfan, Ehlers-Danlos or Stickler syndrome, or other closely related disorders) and their family members may be eligible for this study. Patients enrolled in the study will have a medical history, physical examination and blood tests, as well as other procedures that may include: Echocardiogram (ultrasound of the heart) X-rays and other imaging studies, such as magnetic resonance imaging (MRI) or computerized tomography (CT) scans Lung function studies Urine tests Skin biopsy (removal of a small piece of tissue, under local anesthetic, for microscopic examination) Examination by various specialists (e.g., in ophthalmology, gastroenterology, rehabilitation medicine) as needed Questionnaires regarding chronic pain and fatigue, quality of life, and the impact of the connective tissue disorder on the patient and family. (Patients who wish to enroll but cannot travel to NIH may have a more limited participation, including review of medical records, telephone interview regarding personal and family history, and collection of a specimen (blood, skin biopsy, or other) for genetic testing. Patients will be notified of genetic testing results that show a change responsible for their connective tissue disorder. If they wish, the information will also be sent to their local health care provider, along with recommendations for additional tests or treatment options. No treatment is offered as part of this study. Participating family members who do not themselves have a connective tissue disorder will provide a small blood sample for gene testing and be interviewed by telephone about their personal and family health history. Those whose blood test results show a gene change associated with a connective tissue disorder will be invited to NIH for a discussion of the findings or referred to a genetic center in their area.