View clinical trials related to Muscular Diseases.
Filter by:WiTNNess is designed to accurately document the natural course and variation of muscle disease caused by pathogenic changes of the TNNT1 gene. The primary aim of the study is to specify meaningful outcome measures for future clinical trials. WiTNNess is open to children and adults worldwide. Participants can choose to include their information once (cross-sectional cohort) or every few months (prospective cohort).
Background: Chronic widespread pain is challenging in the management of the patient with rheumatoid arthritis (RA), affecting approximately one third of this patient population. However, pain is not always caused by disease activity (inflammation) but can be associated to central pain mechanisms as seen in fibromyalgia (FM). FM is characterized by widespread pain and tenderness; often accompanied by disturbed sleep, fatigue, cognitive impairment, emotional distress and multiple symptoms from various organ systems. Among patients with RA the prevalence of concomitant FM is reported to be 12-17% compared to 1-3% in the general population. In general the pain, felt by the fibromyalgia patients is considered to be due to lower pain thresholds because of abnormal central pain processing. Pain reported by RA patients with concomitant FM could potentially be explained by this phenomenon. Little is known about RA patients fulfilling criteria for FM. Muscles-studies of FM patients have not found any histopathological explanation of the pain felt, however an old study of muscle changes in RA patients found changes that could explain muscle pain. Small fiber neuropathy (SFN) is a condition associated with autoimmune diseases, and evidence suggests that SFN is likely to contribute to the pain observed in FM. Objectives: To determine the diagnostic test accuracy (sensitivity and specificity) of both muscle- and skin-biopsies for fibromyalgia phenotyping and detection by clinical referral (RA with concomitant FM) as the reference standard (i.e. fulfilment of 2016 FM criteria). Data collection: Will be done as study subjects are included and stored in REDCAP. Eligibility criteria for participants and settings where the data will be collected: RA patients will be assessed in the daily clinic in Esbjerg and Odense and examined for concomitant FM (I.e. satisfying the 2016 criteria for FM). Patients will afterwards be invited to participate in the study. Inclusion will continue until 25 RA patients fulfilling FM criteria and thus based on the expected prevalence at least 25 (- and maximum 50) RA patients not fulfilling FM critieria has undergone the index tests. Whether participants form a consecutive, random, or convenience series: Participants form a consecutive series. Description of the index test and reference standard: Twenty-five RA patients with concomitant FM and more than 25 (- maximum 50 patients) RA patients not fulfilling FM criteria will undergo the index tests. Muscle and skin biopsies will be performed in each group using standardized techniques. The reference standard will be fulfillment of the 2016 criteria for fibromyalgia. Estimates of diagnostic accuracy and their precision: Regarding muscle- and skin biopsies sensitivity, specificity and positive predictive value will be calculated using two times two table. Regarding skin biopsies, median values in the two groups (RA +/- FM) will be compared using a two-sample t-test.
The aim of this study was o determine the relationship between self-reported bruxism (SB) and some psychological factors (i.e: Anxiety State-Trait; Stress Reactivity Index, Beck Depression Inventory). A consecutive sample of 101 patients that reported at least 2 of the 6 items of Bruxism self-reported index, were explored clinically for quantifying the number and severity of worn teeth, and also the severe and location of the muscular pain according to an standardized inventory.
This study will characterize intramuscular molecular mechanisms underlying anabolic resistance to protein ingestion during muscle disuse. Adults (n=12) will be studied using a unilateral leg immobilization model in which one leg will be randomly assigned to immobilization and the contralateral, active leg used as a within-subjects control. Immobilization will be implemented for five days using a rigid knee brace, during which time participants will ambulate using crutches. Integrated ribonucleic acid (RNA) synthesis will be determined during immobilization in the immobilized and non-immobilized legs using ingested deuterium oxide, salivary and blood sampling, and muscle biopsies. Immediately after immobilization, muscle biopsies will be collected before and 90 mins after consuming 25 g of whey protein from the immobilized and non-immobilized legs to characterize the intramuscular molecular response to protein feeding. Serial blood samples will be collected during that time to characterize the circulating metabolic response to protein ingestion. Knowledge generated from this effort will inform the development of targeted interventions for mitigating anabolic resistance to protein ingestion that develops during periods of muscle disuse.
The goal of this clinical trial is to demonstrate the improvement of fibromyalgia syndrome obtained following active stimulation compared to sham, with diminished functional disability and improved health status using Exopulse Molli suit stimulation. The main questions it aims to answer are: Evaluation of pain, fatigue, mood and quality of life changes observed after active stimulation in comparison to sham. Improvement of fibromyalgia syndrome as per the Fibromyalgia Impact Questionnaire (FIQ) Study subjects will participate in: A randomized sham controlled double-blind trial to demonstrate the improvement of pain, quality of life, fatigue and mood in adult patients with fibromyalgia following a 2-week intervention of "active" versus "sham" Exopulse Mollii suit. A 2-week washout period should be enough to prevent a potential carry over effect. After this phase (phase 1), a second open label phase (phase 2) will be proposed for patients to understand the effects of Exopulse Mollii suit employed for 4 weeks (7 sessions per week) on the studied outcomes.
The lung is the organ most affected by COVID-19. There are patients who successfully overcome the acute COVID-19 infection and their lungs return to a normal state. However, a significant number present dyspnea and fatigue as sequelae without having a pulmonary origin, but with a significant impact on functionality. In our published studies in relation to fatigue in patients with symptoms attributed to persistent COVID, the investigators have shown that there is muscle involvement, observing a decrease in mechanical efficiency. This muscle involvement causes stimulation of ventilation through the ergoreceptors, causing ineffective ventilation. This affectation can be explained by the findings obtained in the muscle biopsies that the investigators have performed, where the investigators observed a splitting of the basement membrane of the capillaries causing an alteration in the diffusion of metabolic substrates and oxygen. The main objective of our project is to be able to observe the response in ventilatory efficiency in patients with symptoms of post-covid fatigue after ingesting beet juice.
Source material collection of videos to develop the Mitochondrial Video Assessment (MVA) for patients with mitochondrial myopathies.
RESET-Myositis: Open-Label Study to Evaluate the Safety and Efficacy of CABA-201 in Subjects with Active Idiopathic Inflammatory Myopathy
SELENON-related myopathy (SELENON-RM) and LAMA2-related muscular dystrophy (LAMA2-MD) are congenital neuromuscular disorders presenting with slowly, progressive axial muscle weakness, spinal rigidity, scoliosis and respiratory insufficiency. Currently, no curative treatment options exist, yet promising preclinical trials are ongoing. Clinical trials are expected to start within 5 years. Natural history data and outcome measures for measuring therapy effectiveness were lacking. Therefore, the LAST STRONG Study (a 1.5-year natural history study) started in 2020. With the extended LAST STRONG Study, we aim to further analyze and expand the 1.5-year natural history data on SELENON-RM or LAMA2-MD to provide a detailed clinical description of the Dutch and Flemish cohort. This will enable a smooth transition towards implementation into clinical care and clinical trials. The extended LAST STRONG Study is a prospective, observational natural history study in Dutch-speaking patients of all ages diagnosed with SELENON-RM and LAMA2-MD. Patients will be invited to visit our hospital two times (3- and 5-years) after the first visit in the LAST STRONG Study. During both visits, patients will undergo a subset of tests (neurological examination, functional measurements, questionnaires, muscle ultrasound, MRI, pulmonary assessment and accelerometry). All measurements are adapted to the patient's age and functional disabilities.
Primary Mitochondrial diseases are a clinically and genetically heterogeneous group of disorders caused by mutations in genes encoded by nuclear Deoxyribonucleic Acid (DNA) or by mutations and/or deletions in the mitochondrial DNA (mtDNA). While some mitochondrial disorders only affect a single organ (e.g., the eye in Leber hereditary optic neuropathy [LHON]), many involve multiple organs. Mitochondrial disorders may present at any age and a frequent feature is the increasing number of organs involved in the course of the disease. Minovia Therapeutics Ltd. ("Minovia") is a biotech company developing novel therapeutics based on its mitochondrial augmentation technology (MAT). MNV-201 is a cell therapy produced by MAT that consists of the participant's autologous CD34+ hematopoietic stem and progenitor cells (HSPCs) enriched with allogeneic placental-derived mitochondria, manufactured in Minovia's GMP facility.