Active clinical trials for "Ehlers-Danlos Syndrome"

It is known that 33-50% of Classic and Hypermobile Ehlers-Danlos Syndrome patients eventually develop dysautonomia, otherwise known as "POTS" (Postural Orthostatic Tachycardia Syndrome). Some of these patients develop dysautonomia as a result of a retroflexed odontoid, Chiari 1 Malformation or cranial settling and the resulting basilar impression. Many Ehlers-Danlos patients suffer with the same symptomology with no evidence of a cause according to MRI imaging. It is the author's hypothesis that low-level External Communicating Hydrocephalus appears to be responsible for the constellation of autonomic and cranial nerve symptoms, and if present in the very young, an analysis of head circumference growth in the first 15 months of life should reflect abnormally rapid head growth, supporting this hypothesis.

This study involves a comprehensive nutritional assessment of hEDS participants who have functional gastrointestinal disorders and dietary intervention to broaden their food choices and nutritional intake.

EDS (Ehlers-Danlos syndromes) form a heterogeneous group of hereditary connective tissue pathologies, which present a characteristic triad: cutaneous hyperelasticity, articular hyperlaxity and connective tissue fragility. The innumerable sprains and dislocations of all the joints require recurrent immobilizations and are responsible for a musculoskeletal handicap, chronic pains and a great fatigability, resounding on the quality of life of the patient. The use of custom-made compression garments seems to provide relief from pain, especially nociceptive pain and in stabilizing joints by proprioceptive effect. The SEDCARE study is an observational monocentric, non-comparative study. 76 patients will be followed in this study for 2 years during which they will wear compression custom-made garments (Cerecare®).The main objective of this study is to demonstrate the effectiveness of pressure garments Cerecare in the EDS, especially in terms of joint pain.

Arterial stiffness is associated with increased risk of cardiovascular events and death. Most of existing technique need dedicated device for arterial stiffness evaluation and indirect calculation of intra arterial pressure. Supersonic Shear Imaging (SSI) is a novel non-invasive technique based on remote palpation of biological tissues that can image with very high temporal resolution (up to 10,000 images/s) and quantify the local viscoelastic properties of tissues. The investigators goal was to apply this SSI technique for arterial stiffness evaluation and local pulse wave velocity (PWV) calculation. As a first step, the primary goal of this study is to establish normal values of local pulse wave velocity and arterial stiffness (carotid and femoral) by SSI on hundred healthy volunteers.

The purpose of this study is to evaluate cognition in patients with postural tachycardia syndrome (POTS) while lying down and standing and to assess the prevalence of hypermobile Ehlers-Danlos Syndrome in POTS.

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.

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.

The Ehlers-Danlos syndrome (EDS) is a rare genetic disease caused by an anomaly of the connective tissue. This syndrome has different forms. Hypermobility type is the most common. It is characterized by generalized joint hypermobility, associated with a chronic pain syndrome. Pains appear as the most frequent demonstration of this syndrome, the worst lived and the most crippling. Faced with insufficient effect of drug treatment, other alternatives have been proposed to relieve these patients. Compression garments have been developed. They appear as medical devices targeted specifically for patients with hypermobility EDS type: in the symptomatic treatment of joint pain, in stabilizing joints by proprioceptive effect and of muscle globulization, and in the functional improvement. The VETCOSED study is a quasi-experimental study of type "Before / After", monocentric, open. The study is realized in the Centre Médico-Chirurgical et de Réadaptation des Massues - Croix Rouge Française de Lyon, in association with the Pôle Information Médicale Evaluation Recherche des Hospices Civils de Lyon. This study concerns about 40 patients with EDS hypermobility type, which will be followed for 8 weeks: 4 weeks during which they will wear a compression custom-made garment (short-sleeved vest CICATREX SED®), and 4 weeks during which they do not carry this garment. The main objective is to demonstrate the effectiveness of compression garments in the EDS hypermobility type, especially in terms of symptomatic improvement joint pain. The main outcomes expected of this study are: an improvement of the power and the peaks of couple of muscles rotators of shoulders. a decrease of the pains and the defects of articular stability of the shoulder an improvement of the quality of life and the functional independence of these patients

Ultra-high frequency ultrasound may be useful in the field of vascular research, given its ability to accurately characterize arterial wall thickness and ultrastructure. In patients with fibromuscular dysplasia (FMD), it may help identify the "triple signal" pattern in carotid arterial wall, while in Vascular Ehlers Danlos Syndrome (V-EDS) it may help to accurately measure carotid intima-media thickness, which may be extremely small and difficult to measure with standard equipment. Furthermore, novel features might be identified in small-to-medium sized arteries by ultra-high frequency ultrasound. The main aim of this study is to demonstrate that ultra-high frequency ultrasound has the same accuracy of standard ultrasound for the identification of "triple signal" in the carotid artery of FMD. Secondary aims of this study are to evaluate carotid, radial and digital intima-media thickness, wall ultrastructure and distensibility in 60 patients with FMD and in 30 patients with V-EDS.

The 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.