View clinical trials related to Ehlers-Danlos Syndrome.
Filter by:Ehlers-Danlos Syndrome (EDS) is a disease that weakens the connective tissues (i.e. tendons and ligaments) in the human body. EDS can make the joints loose and alter skin and wound healing. It can also weaken blood vessels and organs. Many EDS patients are referred for investigation of bleeding symptoms. Although most patients will have mild symptoms such as bruising, many will experience significant bleeding that can be life-threatening. The physiological reason behind this has not been identified and therefore, treating this is challenging. In addition, patients with EDS frequently require major surgery due to complications from their connective tissue disease. These surgery carries a significant risk of catastrophic bleeding which is further magnified in this group of patients. The specific reason of clinical bleeding in patients with EDS is likely multifactorial, including skin and blood vessel fragility leading to increased bruising and poor wound healing, coagulopathies related to factor deficiency, acquired vonWillebrand disease (VWD), and notable platelet dysfunction. Despite compelling preliminary evidence, there is limited data on the diagnosis and management of platelet dysfunction in EDS patients. Therefore, in this study we will characterize hemostasis, the medical term which refers to the process of stopping blood flow, across the three most common subtypes of EDS.we will also determine the burden of illness of pathologic bleeding in patients with Ehlers-Danlos Syndrome (EDS) using validated patient reported tools.
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.
Ehlers Danlos Syndrome (EDS) is a heterogenous group of genetic disorders with 13 identified subtypes. Hypermobile EDS (hEDS), although the most common subtype of EDS, does not yet have an identified genetic mutation for diagnostic confirmation. Generalized joint hypermobility (GJH) is one of the hallmark features of hEDS. The scoring system used in measurement of GJH was described by Beighton. The Beighton score is calculated using a dichotomous scoring system to assess the extensibility of nine joints. Each joint is scored as either hypermobile (score = 1) or not hypermobile (score = 0). The total score (Beighton score) can vary between a minimum of 0 and a maximum of 9, with higher scores indicating greater joint laxity. While there is moderate validity and inter-rater variability in using the Beighton score, there continue to be several challenges with its widespread and consistent application by clinicians. Some of the barriers reported in the literature include: i) In open, non-standardized systems there can be significant variation in the method to perform these joint extensibility tests including assessing baseline measurements, ii) Determining consistent and standard measurement tools/methodology e.g. goniometer use can vary widely iii) Assessing the reliability of the cut off values and, iv) Performing full assessment prior to informing patients of possible classification of GJH positivity (low specificity and low positive predictive). Inappropriate implementation of tests to assess GJH results in inaccurate identification of GJH and potentially unintended negative consequences of making the wrong diagnosis of EDS. The objective of this study is to create a more robust and valid method of joint mobility measurement and reduce error in the screening of EDS through use of a smartphone-based machine learning application systems for measurement of joint extensibility. The project will: i) Create a smart-phone enabled visual imaging app to assess the measurement of joint extensibility, ii) Assess the feasibility of using the smart-phone app in a clinical setting to screen potential EDS patients, iii) Determine the validity of the application in comparison to in person clinical assessment in a tertiary care academic EDS program. If successful, the smart-phone application could help standardize the care of potential EDS patients in an efficient and cost-effective manner.
Local anesthetic resistance is commonly reported by patients with EDS. However, there are no objective data on the occurrence of local anesthetic resistance in EDS patients and in healthy volunteers. We propose to collect such objective data on the frequency of drug resistance and whether any problems with local anesthesia are due to initial ineffectiveness or due to its effects dissipating too soon.
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.
Brittle Cornea Syndrome and Ehlers-Danlos Syndrome (EDS) type VI are rare collagen-connective tissue disorders that predispose affected individuals to the development of perforated corneas from the mildest of eye trauma or even spontaneously. Clinical studies evaluating riboflavin-corneal crosslinking have found that it dramatically increases corneal rigidity. Given the success and safety of riboflavin crosslinking, the investigators believe that it can increase the corneal stability in patients affected these disseases, preventing perforation. It is furthermore possible, that riboflavin crosslinking will allow corneal transplants to successfully be performed on blind eyes that have already perforated and opacified. The purpose of the study is to determine whether corneal crosslinking can be safely performed on individuals with Brittle Cornea Syndrome or Ehlers-Danlos Syndrome type VI.