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Myopathy clinical trials

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NCT ID: NCT06374719 Recruiting - Myopathy Clinical Trials

WiTNNess - TNNT1 Myopathy Natural History Study

WiTNNess
Start date: September 23, 2018
Phase:
Study type: Observational [Patient Registry]

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).

NCT ID: NCT05599568 Recruiting - Myopathy Clinical Trials

Repeated Bout Effect i Neuromuscular Diseases

Start date: May 15, 2022
Phase: N/A
Study type: Interventional

The repeated bout effect (RBE) refers to the adaptation whereby a single bout of eccentric exercise protects against muscle damage from subsequent eccentric bouts. This effect has been shown in many muscle groups using both serum biomarkers, muscle soreness and imaging techniques. Though the effect is well described in healthy, it has never been studied in patients with neuromuscular diseases (NMDs). In healthy, the RBE is only described using eccentric exercise, but unlike healthy persons, patients with NMDs can experience significant muscle damage with concentric exercise. This raises the question, if patients with NMDs could also show RBE when performing concentric exercise.

NCT ID: NCT04941079 Not yet recruiting - Covid19 Clinical Trials

Safety and Efficacy of Inactivated SARS-CoV-2 Vaccine in Immune-related Myopathy (Myasthenia Gravis and Inflammatory Myopathy) Patients :a Prospective Observational Study

Start date: June 30, 2021
Phase:
Study type: Observational [Patient Registry]

This study is a prospective observational study. We aim to investigate the safety and efficacy of inactivated SARS-CoV-2 vaccine between immune-related myopathy (myasthenia gravis and inflammatory myopathy) patients and health controls. The main study factors include adverse events following immunization (AEFI), serum specific antibody (Acetylcholine receptor (AChR) antibody, Anti-MuSK (muscle-specific kinase) antibody, myositis antibody) and virus neutralizing antibody titers.

NCT ID: NCT04881214 Active, not recruiting - Clinical trials for Chronic Thromboembolic Pulmonary Hypertension

COVID-19 Pneumonia: Pulmonary Physiology, Health-related Quality of Life and Benefit of a Rehabilitation Program

COVISQAR
Start date: July 1, 2020
Phase: N/A
Study type: Interventional

The pathophysiological processes involved in COVID-19 pneumonia are not fully understood. Specific alterations of the airways, lung parenchyma and pulmonary vascular tree could explain a severe ventilation/perfusion heterogeneity resulting in severe hypoxemia during the active phase of the disease. Additional skeletal muscle impairment related to systemic inflammation may also explain persisting symptoms in the follow-up phase. The first aim of the present project is to explore these different processes by evaluating the impact of the COVID-19 pneumonia on exercise capacity, pulmonary function and perfusion by a physiological and radiologic study. An ambulatory pulmonary rehabilitation will also be studied to assess its impact on the physiological parameter mentioned and the health-related quality of life questionnaire as a potential long-term treatment. The investigators propose a single center randomized controlled study at the University Hospitals of Geneva. 60 adult patients having suffered a hypoxemic COVID-19 pneumonia with persistent symptoms at 3-months after hospital discharge will be included. A functional and physiological study will be performed, including a six-minute walk test, pulmonary function testing, diffusing capacity for carbon monoxide, maximal inspiratory pressure and sniff nasal inspiratory pressure. Those with at least one abnormal value will be invited to fill the Saint Georges Respiratory Questionnaire, the Short Form 36 and the Hospital Anxiety and Depression Scale and will undergo a chest dual energy computed tomography (DECT), a cardiopulmonary exercise testing with non-invasive cardiac output and stroke volume evaluation and an evaluation of the pulmonary shunt by hyperoxia (100% oxygen breathing) at rest and during light effort. Then patients will be randomized on a 1:1 basis for pulmonary rehabilitation program or usual care. All work-up except DECT will be repeated at 6 and 12 months after hospital discharge. The investigators hypothesize that our study will allow a better understanding of pathophysiological mechanisms involved in COVID-19. This will potentially determine therapeutic target for patients with persisting symptoms and functional decay after COVID-19. The investigators also expect to see an improvement of exercise capacity and physiological parameters in the pulmonary rehabilitation group, as compared to the control group, suggesting pulmonary rehabilitation as a possible long-term treatment of this condition.

NCT ID: NCT04678635 Recruiting - Myopathy Clinical Trials

Chronic Transcranial Direct Current Stimulation in Patients With Systemic Autoimmune Myopathies

Start date: December 12, 2020
Phase: N/A
Study type: Interventional

Systemic autoimmune myopathies are rheumatic diseases that affect the striatum skeletal muscles. The transcranial direct current stimulation technique has been frequent, for example, in patients with ischemic stroke or for the optimization of muscular performance in athletes. However, to date, there are no studies evaluating this technique in patients with systemic autoimmune myopathies. Therefore, the main objective of the present prospective, randomized, double-blind, placebo-controlled study is to evaluate the safety and efficacy of the application of chronic transcranial direct current stimulation sessions - associated with aerobic exercises - in the patients with systemic autoimmune myopathies.

NCT ID: NCT03998540 Recruiting - Genetic Disease Clinical Trials

Improvement of DIAgnostic and Phenotype-genotype Correlation Studies in Patients With MYOpathy Suspected of TITinopathy

DIAMYOTIT
Start date: December 5, 2019
Phase:
Study type: Observational

Due to the widespread use of NGS, TTN is emerging as a major causative gene in neuromuscular disorders, with high clinical heterogeneity. The mechanisms underlying the phenotypic variability and mode of inheritance (recessive or dominant) of titinopathies are poorly understood. They involve the primordial structural functions of titin on the formation and stability of the sarcomere, as well as its interactions with other proteins. We identified by NGS, in patients with skeletal myopathy (with or without cardiomyopathy), several potentially disease causing TTN variants. The specific aims of the present project are to implement functional studies (transcripts, protein analyses, in vitro protein-protein interaction studies) to evaluate the effect of TTN variants on the transcripts and protein in order to perform phenotype-genotype correlation studies. We participate to the national "titin network" and to international efforts for the understanding of the molecular bases of titinopathies. Genomic characterisation opens the way to develop cellular models of titinopathy, derived from patient biopsies. This is also a mandatory first step for the design of novel therapeutic approaches.

NCT ID: NCT03751644 Completed - Rheumatic Diseases Clinical Trials

Peripherical Neuromuscular Electrical Stimulation in Systemic Autoimmune Myopathies

Start date: November 1, 2018
Phase: N/A
Study type: Interventional

Systemic autoimmune myopathies are a heterogeneous group of rheumatic diseases with progressive skeletal muscle weakness. The relevance of the peripherical neuromuscular electrical stimulation has never applied in the patients with systemic autoimmune myopathies. Therefore, the main objective of the present prospective, randomized, investigator-blind, placebo-controlled study is to evaluate the safety and efficacy of the application of an acute peripherical neuromuscular electrical stimulation session in patients with systemic autoimmune myopathies.

NCT ID: NCT03749538 Recruiting - Clinical trials for Neurologic Manifestations

Acute Transcranial Direct Current Stimulation in Patients With Systemic Autoimmune Myopathies

Start date: October 1, 2018
Phase: N/A
Study type: Interventional

Systemic autoimmune myopathies are a heterogeneous group of rheumatic diseases that primarily affect the skeletal muscles. The transcranial direct current stimulation technique has been frequent, for example, in patients with ischemic stroke or for the optimization of muscular performance in athletes. However, to date, there are no studies evaluating this technique in patients with systemic autoimmune myopathies. Therefore, the main objective of the present prospective, randomized, double-blind, placebo-controlled study is to evaluate the safety and efficacy of the application of acute transcranial current stimulation session in patients with systemic autoimmune myopathies.

NCT ID: NCT03660969 Recruiting - Muscle Weakness Clinical Trials

Reliability of Cardiac Troponins for the Diagnosis of Myocardial Infarction in the Presence of Skeletal Muscle Disease

H&M
Start date: January 1, 2018
Phase:
Study type: Observational

Visits to the emergency department (ED) for chest pain are extremely common and require a safe, rapid and efficacious treatment algorithm to exclude a possible AMI. These diagnostic algorithms are partly based on an important laboratory value, which showed growing utility in the diagnostic and prognostic of many cardiovascular diseases in the last years : cardiac troponin. However, some patients with muscle disease often present with unexplained elevated high-sensitive cardiac Troponin T (hs-cTnT) levels in the absence of cardiac disease. The investigators aim at the characterization of the behaviour of this biomarker and its alternative (high-sensitive cardiac Troponin I), which will have important clinical implications on patients management.

NCT ID: NCT03633565 Not yet recruiting - Myopathy Clinical Trials

Comparative Study of Strategies for Management of Duchenne Myopathy (DM)

Start date: September 2018
Phase: Phase 4
Study type: Interventional

1. Comparing different lines of treatment of Duchenne Myopathy (DM) and assessment of new lines of treatment (mesenchymal stem cell, phosphodiesterase inhibitors) in reducing the impact of disability in the patients with Duchenne Myopathy and slowing the progression of cardiomyopathy 2. Upsetting and implementation of the best treatment plan for those children with Duchenne myopathy which is suitable for the available resources in Assiut University Children Hospital