View clinical trials related to Marfan Syndrome.
Filter by:The crystalline lens of the human eye helps to sharpen vision. There can be issues with the support/stability of the lens. This could be seen with the naked eye of an external observer or with the use of a slit lamp. Certain eye conditions can predispose to issues with lens stability. If patients have stability issues with their natural lens- this would be termed as "phakodonesis". However, in patients who have had prior cataract surgery with implantation of an artificial lens (IOL)- this would be termed as "pseudophakodonesis". Eye conditions such as pseudoexfoliation or Marfan-syndrome can lead to unstable lens support- this can be detected if there are advanced stability issues. However, small instability in the eye's would not be detected with present descriptive methods. The authors have designed a high-speed camera which is able to detect stability of the lens, especially during eye movements. The high-speed camera can detect variation in the change of light reflex from the lens and calculate the amount of lens instability/oscillation. The results (in normal eyes) of this high-speed camera has already been published in a peer-review journal. It is non-contact and measures lens movement. The test lasts less than 5 minutes. Further research is required to assess the amount of lens oscillation (wobbling) in different eye populations - patients with previous cataract surgery (an artificial implant is used to replace the lens) or eye conditions (such as pseudoexfoliation, Marfan syndrome). The amount of lens stability has a role in the planning of further intraocular surgery - especially cataract extraction - however, at present, there is no approved quantitative measurement for this. Participants will be recruited through Anglia Ruskin University (educational establishment), local community groups, and through Southend University Hospital eye clinics (NHS organisation). Participants' data will remain anonymous.
There are no prospective studies of pregnancies for the diseases studied here in (Heredity Hemorrhagic Telangiectasia, Marfan syndrome, primary lower limb lymphedema, superficial arteriovenous malformations, and cerebro-spinal arteriovenous malformations) although complications of these can present life-threatening health problems for the mother and her baby. The purpose of this National prospective study is to obtain greater insight into obstetrical complications associated with rare maternal vascular genetic disorders in order to improve prevention and to reduce risk of death. In this context, experts and patient associations consider that there is a need to make real progress in the formulation of recommendations based on scientific data.
Upper airway obstruction (UAO) is an unrecognized source of hemodynamic stress that may contribute to aortic adverse events in persons with Marfan Syndrome (MFS). UAO occurs during snoring and sleep apnea and is characterized by repetitive partial or complete obstruction of the upper airway during sleep. These obstructive breathing events lead to intermittent surges in blood pressure (BP) REF and large decreases in pleural pressure (Pes), thereby increasing the trans-mural aortic pressure (TMP) and imposing mechanical stress on the aorta during sleep. Although UAO is known to increase mechanical stress on the aorta, the magnitude of the increase is not known for persons with MFS. In this project, therefore, the investigators will also examine the changes in Pes and BP responses in periods of obstructed breathing and compare the diurnal markers or vascular stress between Baseline and CPAP studies in MFS persons.
Marfan 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.
Marfan patients are at risk of sudden death due to weakening of the wall of the large blood vessel leading from the heart (aorta). The wall of the aorta weakens and dilates which can rupture, leading to death, and sometimes during intense exercise. There is some evidence in Marfan patients that a stiffer aorta increases risk for rupture. For some time, clinical care has focused on what type of exercise these patients should avoid due to risk for aortic dissection. Little clinical emphasis has been placed on encouraging patients to engage in routine and safe exercise such as walking. Informed by this evidence, the investigators propose to collaboratively investigate whether regular exercise improves aortic health in adolescent Marfan patients.
The main purpose of this study is to define the complex genetic and pathogenic basis of thoracic aortic aneurysm (TAA) and other forms of aortopathy and/or aortic valve disease by identifying novel disease-causing genes and by identifying important genetic modifiers for aortic and aortic valve disease severity.
Social cognition refers to mental operations that enable people to perceive, interpret constantly changing social informations. These processes allow people to rapidly, effortlessly and flexibly perceive and interpret rapidly-changing social information, and respond appropriately to social stimuli. Besides, this ability gives meaning to the actions of others. Impairments in this field may largely underlie social dysfunctions and reduce adaptive skills. Moreover, social cognitive disabilities contribute more or less directly to behavioral disturbances and psychiatric symptoms The "RC KID" program involves a variety of exercises in a paper and/or pencil or a computerized format or role playing and a strategy coaching approach. "RC KID" targets the emotion recognition and social interaction. A little cartoon character (a pirate), is supposed to be very friendly and kind toward children. The pirate will accompany them throughout the program for an effective and positive reinforcement. The main goal of "RC KID" is to adjust to children's difficulties in daily life. Moreover, since the cognitive remediation benefit is complex to apply in daily life, the program is based on a metacognitive strategy. After a complete neuropsychological assessment and a psychoeducational session (with the child and the parents), 16 1-h-sessions of cognitive remediation with the therapist are proposed. Each session is composed of three parts: (1) computerized tasks focusing on specific emotion recognition components (20 min). RC KID is composed of 2 modules : Emotion recognition and social interaction. These tasks contain photo or video. (2) pen and paper or role playing tasks focusing on the same processes (20 min) (3) a proposal of a home-based task (during 20 min). Weekly, home tasks are proposed to the child and analyzed with the parents and the therapist. Indeed, home exercises are useful to promote the transfer of strategies to daily life and their subsequent automation. The heterogeneity of cognitive deficits in 22q11.2 deletion necessitates an individualized cognitive remediation therapy. In this regard, "RC KID" seems to be a promising tool.
Marfan syndrome (MFS) is a rare genetic disease (1/5000) characterized by the association of ocular impairment, cardiovascular disease and musculoskeletal disease. In some chronic conditions, physical activity and training have been shown to be effective in improving muscle strength and functional abilities but also fatigue and quality of life. We hypothesize that the implementation of a personalized exercise rehabilitation program (Personalized Training Program) in children and young adults with MFS, by improving muscle mass, physical endurance, muscle strength, bone mass and quality of life of these patients. In order to test this hypothesis, investigators wish to carry out an interventional, prospective, monocentric study for the first time in children and young adults (<25 years old) presenting an MFS.
This is a 5-week, multi-center, open-label, dose optimization trial in subjects aged 12-17 years with 22q11DS who have a diagnosis of anxiety disorder, and/or ADHD, and/or ASD. Approximately 12 subjects will be initiated, dose optimized, and maintained on NFC-1 over a period of 5 weeks.
Medical researchers of National Heart Centre Singapore will carry out a state-of-the-art study that examines the possibility of changing patients' own cells into multi-functional and potent stem cells called iPS cells. These iPS cells can subsequently give rise to functional cardiac cells (myocytes) and other cardiovascular cells which might give further clues into the manifestation of the structural heart disease. This study involves blood sample collection for pre-screening and skin biopsies to establish skin cell culture.