Active clinical trials for "Ehlers-Danlos Syndrome"

The goal of this observational study is to learn and assess muscle morphological and electromechanical properties in patients affected with Marfan syndrome (MFS) and Ehlers Danlos syndrome (EDS). the main questions it aims to answer are: To assess the ability to develop muscle strength; Muscle and tendon morphology involved in muscle contractions/relaxation; Neuromuscular functionality. Participants will be take part in the study by performing a test for the assessment of the neuromuscular activity (voluntary muscle contractions) and undergoing a muscle ultrasound for the study of muscles and tendons. Researchers will compare the two groups with a control group to see potential differences in the morphological and neuromuscular structures of syndromic patients.

Hypermobility Spectrum Disorder and hypermobile Ehlers-Danlos Syndrome (HSD/hEDS) is under-recognized and poorly understood and its management is therefore not clear. The goal of this study is to better understand pain and its impact on function in the daily activities of adolescents with Hypermobility Spectrum Disorder and/or hypermobile Ehlers-Danlos Syndrome. This study will explore the presence of the pain sensitivity status after physical exercise as well as movement behaviour in adolescents with HSD/hEDS compared to a healthy control group.

We examine patients with different autonomic neuropathies and Ehlers Danlos syndromes compared to healthy controls at three different points over time (baseline, after 3 months and after 1.5 years) to gain knowledge about the course of this disease and understand its pathophysiology, with a focus on Small Fiber neuropathy. Moreover we will validate the german version of the Malmö POTS Score and establish an easy diagnostic scheme for patients in outpatient care.

In this study, researchers want to learn about the connection between heavy bleeding issues and joint hypermobility (loose joints). They want to know if these issues may indicate other connective tissue problems in girls and women with heavy menstrual bleeding who do not have a known cause. Primary Objective Compare the severity of heavy menstrual bleeding (HMB) in women with and without Generalized joint Hypermobility Syndrome Disorder/hypermobile Ehlers-Danlos Syndrome (G-HSD/hEDS). Secondary Objectives Compare the severity of heavy menstrual bleeding (HMB) in women with and without Generalized joint Hypermobility Syndrome Disorder/hypermobile Ehlers-Danlos Syndrome (G-HSD/hEDS).

The goal of this observational study is to describe and assess the presence of perceived fatigue in subjects with MFS and EDS. the main question it aims to answer through the FSS instrument is: The relationship of fatigue with physical and psychological characteristics, the presence of depressive disorders and insomnia.

The goal of this observational study is to describe the natural course of vascular Ehlers-Danlos syndrome, in particular the order of appearance of different types of complications (arterial, digestive, pulmonary and uterine).

Vascular Ehlers-Danlos Syndrome (VEDS) is caused by pathogenic variants of the COL3A1 gene, resulting abnormal Type III collagen protein. This impacts the body's connective tissue and makes people with VEDS at high risk of spontaneous aortic and arterial rupture, pneumothorax, and hollow organ perforation across the age spectrum. Given this risk and high potential for lethality, VEDS is considered the most severe type of Ehlers-Danlos Syndrome. In addition, many patients experience chronic pain and fatigue, sleep disturbances, and mental health challenges. As is the case for many patients with chronic illness, stress, anxiety, and depression are often present over the course of the disease. Despite the antecedent, stress and anxiety trigger a sympathetic nervous system (SNS) response in the body, which, over a period of time, can have detrimental effects both physiologically and psychologically for patients. Recent studies have begun to use biofeedback techniques to teach patients non-pharmacological strategies for managing their autonomic nervous system. One such program, Heartmath®, has been successful in helping patients lower stress, anxiety, and systolic blood pressure. This pilot trial was established to assess the effectiveness of a virtually based heart coherence program in a population with a chronic aortopathy in an effort to establish a larger, multi-provider program that also encompasses other cardiovascular populations.

The purpose of this study is to investigate the efficacy of enzastaurin compared to placebo in preventing arterial events (rupture, dissection, pseudoaneurysm, carotid-cavernous sinus fistula, or aneurysm, fatal or not) leading to intervention or mortality attributable to an arterial event in patients with vEDS confirmed with pathogenic heterozygous COL3A1 gene mutations predicted to derive a mutant protein.

For hEDS or HSD patients with MDI, a multidisciplinary treatment approach is suggested. As follows, physiotherapy plays a key role in this integrative management. Nevertheless, knowledge regarding EDS is limited among health care professionals. Consequently, evidence-based treatment approaches for the hEDS/HSD population are scarce. Therefore, the aim of this study is to compare two different home-based exercise programs in order to increase our knowledge regarding treatment options, and to gain insight in safe, effective exercises for the unstable shoulder in this study population.

Establishing the diagnosis of Ehlers Danlos Syndromes (EDS)/generalized hypermobility spectrum disorders (G-HSD) is often problematic for patients. The absence of a precise unifying diagnosis in patients results in a significant emotional burden on the patient and caregivers, not to mention the hidden costs, including multiple recurring visits to several medical specialists and associated social and economic costs. To date, while collagen ultra-scale morphological heterogeneity has been used to comment on an EDS diagnosis, the mechanical properties of the collagen remain mostly unexplored. From a biophysical point of view, collagen affected with hEDS can be described as biomechanically deficient. In the case of EDS, the skin's abnormal elasticity can be directly related to the organization of the collagen network within the dermis. Quantitative Nanohistology (QNH) is a newer method to evaluate both the structural and mechanical properties of collagen in-situ histological sections. Therefore, the aim of this study is to define histo-biophysical markers of two most common types of EDS i.e. classical EDS (cEDS) & hypermobile EDS (hEDS) at the single collagen fibrils level and matrix and to further explore the origin of collagen fibril properties deficiency in hEDS and cEDS.