Active clinical trials for "Ehlers-Danlos Syndrome"

The purpose of this study is to conduct a feasibility clinical trial by implementing a 1-session pain relief skills intervention (Empowered Relief; two hours total treatment time) for individuals with Marfan syndrome, Vascular Ehlers-Danlos Syndrome, Loeys-Dietz Syndrome, and related conditions.

Specific Aim: To show the safety and efficacy of prolotherapy injection for chronic sacroiliac and myofascial lumbar pain while standardizing an ultrasound guided injection technique Specific Aim: To demonstrate that dextrose prolotherapy subjectively decreases lumbar back pain (LBP) associated with chronic sacroiliac (SI) and myofascial lumbar back pain/injury in patients with Hypermobile-Type Ehlers-Danlos Syndrome (hEDS). Specific Aim: To use ultrasound (US) guidance to identify SI and myofascial lumbar back pain/injury for targeted dextrose prolotherapy treatment and to provide objective measures of decreasing inflammation via Power Doppler and ligament repair. Specific Aim: To determine if US-guided dextrose prolotherapy decreases the direct costs of care for chronic LBP in contrast to conventional therapies by reducing return visits, specialty referrals, physical therapy, medications, and unnecessary procedures.

The hypothesis of the OXYSED study is that the delivery of 3 months of oxygen therapy via an oxygen concentrator would reduce fatigue, pain, headaches, kinesiophobia, drug intake, dyspnea, and improve walking performance, quality of sleep and quality of life of patients with Ehlers Danlos syndrome hypermobility type (EDS / HT).

A joint is considered "hypermobile" when it has a greater range of motion than normal for a given age, ethnicity or gender. Many people have asymptomatic hyperlaxity in multiple joints, a condition called Generalized Joint Hypermobility (GJH). Conversely, hyperlaxity can be symptomatic, a condition that has been defined "Joint Hypermobility Syndrome" - JHS. Diagnosis of JHS is commonly performed by applying the revised Brighton criteria. Based on these criteria, an individual is diagnosed with JHS with a Beighton score >/= 4/9, and arthralgia for 3 or more months in 4 or more joints (major criteria). The dynamic body balance test (i.e. the stability test with multiple single-leg jumps) can provide information regarding the effectiveness of the feedforward and feedback mechanisms in correcting the postural deviations necessary to achieve successful performance during daily and sporting activities. Such assessment may also be useful to demonstrate deficiencies in balance, especially in young patients with increased physical activity. The aim of this study is to examine the postural balance of individuals with JHS by performing stability tests in monopodalic and bipodalic stance with the "Delos Postural Proprioceptive System"

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. The investigators 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.

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 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.

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.

The purpose of this study is to investigate the accessibility of beauty products for individuals with upper extremity disabilities. By examining various factors such as packaging design, product applicators, and ease of use, this research aims to identify barriers faced by individuals with upper extremity disabilities or visual deficits when using beauty products. The study seeks to provide insights and recommendations for improving the accessibility of beauty products, ultimately promoting inclusivity and enhancing the overall beauty experience for individuals with disabilities.

RED is a retrospective and prospective registry, finalized to care and research. It is articulated in main sections - strongly related and mutually dependent on each other - corresponding to different data domains: personal information, clinical data, genetic data, genealogical data, surgeries, etc. This approach has been individuated in order to corroborate and integrate data from different resources and aspects of the diseases and to correlate genetic background and phenotypic outcomes, in order to better investigate diseases pathophysiology.