View clinical trials related to Ehlers-Danlos Syndrome.
Filter by:This study evaluates the effects of wearing a compression garment on the postural balance of patients with hypermobility type of Ehlers-Danlos syndrome, in randomised controlled study.
Objective of this study is to assess the efficiency of NOVATEX MEDICAL compression garments in patients with an Ehlers-Danlos syndrome (EDS). To answer this objectif a comparison before/after use of compression garments will be performed for all patients.
We are planning to collected blood and saliva for DNA extraction to use for genetic testing of children and adults with EDS and their relatives. Medical records from other institutions and clinical notes for visits in Dr. Holick's clinic will be reviewed to obtain the following information: previous diagnosis at other institutions, age, clinical signs and symptoms of EDS, Joints Hypermobility Syndrome (JHS), , and other metabolic or genetic disorders and laboratory results, radiology reports and images, and genetic testing that supports these diagnoses. Subjects' peripheral vein blood and saliva will be taken. No clinical intervention/randomizations will be performed. No patients' identifiers will be reported. In this pilot study genomic DNA will be extracted and will be used for genotyping as sequencing in 30 EDS patients and their 30 relatives with or without EDS to compare genetic variations between them. After validation by Sanger sequencing for these variations, we plan to prepare a genetic panel for EDS. After all validation testing, we plan to evaluate the saliva DNA in a similar manner and compare the results with those obtained from the DNA from the blood sample. The purpose is that if they are comparable, we will be able to use saliva in place of blood as it easier method for accessing a person's DNA. This will be especially helpful for evaluating infants or those patients who prefer not to have a blood sample drawn. NOTE: Results of this study will not be disclosed to subjects.
Sudoscan™ (Impeto Medical, Paris France) uses electrochemical skin conductance as a novel noninvasive method to detect sudomotor dysfunction. Several small studies have recently shown that Sudoscan use in the assessment of small fiber polyneuropathy (in diabetes mellitus) can be performed non-invasively, quickly and effectively. The investigators aim to study the use of Sudoscan in rare disease condition associated with small fiber polyneuropathy.
Benign Hypermobility Joint Syndrome is a group of inherited abnormalities in the structure of connective tissues, manifested by disturbances in the proportion of collagen. The main symptoms of this syndrome include: laxity of joint capsules and ligaments, hypermobility of the joints, as well as numerous disturbances in the functioning of internal organs that contain connective tissue, including the gastrointestinal tract. Hypermobility of joints affects approximately 10% of the population of Western countries, is more common in small children and female. Modified Beighton scale is the basic scale for assessing hypermobility of joints. The scale (as assessed using the goniometer) is a reliable tool for the evaluation of excessive laxity of the connective tissue in children. Functional constipation is a very common condition, affecting approximately 3-5% of children and adolescents, with peak onset between 2 and 4 years of age. The etiology of this disorder is multifactorial, and till day it is still exactly unknown why some children develop constipation, while in others we can observe the correct scheme of defecation. Suspending stool enhances the retention of fecal masses, which subsequently causes painful defecation. Diagnosis is based on history, clinical symptoms and physical examination. Increased susceptibility of the wall of the distal gastrointestinal tract could explain the predisposition of some children to retain fecal masses and the development of constipation. Due to the unclear etiology of functional constipation, it seems reasonable to conduct a study assessing whether excessive laxity of connective tissue (assessed on the basis of the hypermobility of the joints) facilitates the accumulation of stool in the large intestine, and so is the one of the reasons leading to development of functional constipation in children.
The Ehlers-Danlos Syndrome (SED) comprises a group of clinically and genetically heterogeneous, inherited connective tissue diseases. The hypermobility type is the most frequent. It is characterized by a generalized joint hypermobility and a hyperextension skin. Chronic pain syndrome is often present. Its psychological impact can be significant (anxiety, depression, impact on the quality of life of the patients). The disease also requires changes and a permanent adaptability (coping). It can lead to feelings of isolation and misunderstanding. The French association of the Ehlers-Danlos Syndromes and the rehabilitation center of the 'Croix-Rouge Française des Massues' propose a patient education program for the patients with a hypermobility type SED (the PrEduSED program). This education program is open to patients and their caregivers located in France. The research hypothesis is that the PrEduSED program improves their coping and reduces patient anxiety at 6 months (these are the two clinical criteria on which the PrEduSED could have the most impact, given the results of the first sessions).
Ehlers-Danlos Syndrome (EDS) is an inherited disease of collagen, found in connective tissues, such as skin. EDS patients suffer from joint and skin problems (skin hyperextensibility, joint hypermobility) along with a large range of other disorders, including, delayed wound healing with atrophic scarring, easy bruising, tissue fragility, gastrointestinal and gum problems. There are many different types of EDS, with different mechanisms of action, and not all of these are well understood. This study will used advanced microscopy techniques called atomic force microscopy (AFM) and scanning electron microscopy (SEM) to analyse the changes in collagen as a result of EDS, compared to normal collagen. These changes will be viewed at the micron and nanoscale level (between 1,000 to 100,000 x magnification), and will focus on the differences in collagen construction through a process called cross-linking. These changes could potentially help clinicians understand the root cause of EDS symptoms, and provide a deeper knowledge of cross-linking disorders in collagen. Increasing our knowledge of how collagen is affected in EDS patients, may lead to improved treatment options for patients.
Ehlers-Danlos Syndrome (EDS) is a clinically and genetically heterogeneous group of inherited connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. EDS features such as genetically related cartilage defects, craniofacial abnormalities and increased pharyngeal collapsibility have been proposed to cause obstructive sleep apnoea (OSA). There is evidence from studies based on questionnaires that EDS patients might be more frequently affected by OSA and sleep disturbances than the general population. However, the actual prevalence of OSA in children and adolescents with EDS is unknown. The primary objective of this study is to assess the prevalence of OSA in children and adolescents with EDS (25) compared to a matched control group (25). The secondary objective of this pioneer study is to assess the quality of life in children and adolescents in EDS in comparison to healthy children and adolescents.
This study aims to verify the hypothesis that patients with Vascular Ehlers Danlos syndrome (vEDS) should benefit of the blockade of angiotensin (Ang) II noxious effects on their vasculature affected by a defect in type III collagen in addition to the effects celiprolol. This randomized, double blind, placebo controlled trial compares the administration of the Ang II type I receptor blocker (ARB) - irbesartan- to placebo over a 2-year period in vEDS patients with the main objective to reduce the incidence of both symptomatic and asymptomatic vascular events.
Ehlers-Danlos Syndrome (EDS) is a clinically and genetically heterogeneous group of inherited connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. EDS features such as genetically related cartilage defects, craniofacial abnormalities and increased pharyngeal collapsibility have been proposed to cause obstructive sleep apnoea (OSA). There is evidence from studies based on questionnaires that EDS patients might be more frequently affected by OSA and sleep disturbances than the general population. However, the actual prevalence of OSA in patients with EDS is unknown. Aortic root dilation and dissection are common complications of EDS and little is known about the underlying risk factors. Preliminary evidence suggests a link with OSA but this has not yet been investigated. The primary objective of this study is to assess the prevalence of OSA in EDS-patients (100) compared to a matched control group (100). The secondary objective of this pioneer study is to assess whether there is a relationship between OSA severity and aortic diame-ter/craniofacial abnormalities in EDS patients.