View clinical trials related to Muscular Diseases.
Filter by:Background: Congenital myopathies (CM) are genetic disorders that can cause decreased muscle tone and muscle weakness. Most CMs in the United States are related to the ryanodine receptor 1 (RYR1) gene. Researchers need more natural history data to learn about these CMs in children and adults. Objective: To learn more about the signs, symptoms, and course of RYR1-related disorders. Eligibility: People aged 7 years and older with an RYR1-related disorder. Design: Ambulatory participants will come to the Clinical Center and non-ambulatory participants will visit via telehealth. Visits will be once a year for 3 or 5 years. Clinical Center visits will take 2 to 3 days. All participants will undergo tests including: Photos and videos. These will be taken to document the participant s condition. Blood and urine tests. Activity Tracker. Participants will wear a device to record their activity. Questionnaires. Participants will answer questions about their health, pain, fatigue, stress, quality of life, and other topics. Participants who visit the Clinical Center will also undergo: Tests of heart and lung function. Motor skills and strength tests. Participants will walk, climb stairs, kneel, crawl, stand up, and perform other movements to test their strength and abilities. They will squeeze and pinch a handheld device to test their grip. Imaging scans. Skin biopsy. Adult participants may opt to have a sample of skin taken (one time only). Eye exam
Core myopathies (CCD/MmD), nemaline myopathies (NEM) and centronuclear myopathies (CNM) are three types of rare congenital myopathies. Not much is known about the natural history and no curative treatment is available for these groups. Also patients report fatigability as one of their symptoms. The goal of this observational study is to study the natural history during 24 months to achieve trial readiness and to study the muscle fatigability in CCD/MmD, NEM and CNM.
Adult patients with suspected or confirmed idiopathic inflammatory myopathy (IIM) will be recruited. Patients will be approached, consented, have baseline demographics, diagnostics and disease activity measures recorded, and blood taken. The collection of data and biological material will mirror usual clinical practice as far as possible. Subjects will ideally attend further visits at 3, 6 and 12 months to have bloods taken, outcome measures recorded and questionnaires completed.In addition, blood, muscle biopsies and imaging undertaken as part of usual care will also be collected for research purposes to measure a number of biomarkers for the assessment of diagnostic accuracy and clinical utility evaluation. As per usual practice, a muscle biopsy will be performed at baseline, and a further biopsy offered at 6 months to assess treatment response. A magnetic resonance (MR) muscle protocol will also be performed as per usual clinical practice, and a gadolinium-enhanced MR heart scan offered. Both these scans will be repeated at 6-12 months. An existing electronic database entry system will be used for data entry and capture on an anonymised basis.
Correlation between clinical , ultrasonographical, neurophysiological and histopathological findings in muscle diseases of different etiologies.
This study aims to determine the association between the pathological changes detected by ultrasound and those detected in MRI in muscle diseases of different etiologies.
1-standardization of semi quantitative muscle ultrasonographic parameters ( muscle thickness (MT) and echo intensity (EI) ) in healthy adults and to obtain a set of normal values of all accessible muscle in both upper and lower limbs. 2.standardizaition of quantitative muscle ultrasonographic parameters (Gray scale level (GSL), Calibrated muscle backscatter values (cMBs), Optical Density (OD), 2D Textu1) in healthy adults and to obtain a set of normal values of all accessible muscle in both upper and lower limbs.
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.
Autoimmune necrotizing myopathies (AINM) in adult patients are characterized by severity of muscle damage, presence of necrosis with little inflammation on muscle biopsy and anti-HMGCR or anti-SRP auto-antibodies. Data on AINM in children are currently lacking. The purpose of this study is to specify the characteristics at AINM diagnosis, treatments and evolution of juvenile AINM with anti-HMGCR or anti-SRP antibodies.
This study aims to explore the clinical and immunological efficacy of low-dose Interleukin-2 (IL-2) and cyclosporin a (CSA) on idiopathic inflammatory myopathy (IIM)
This study aims to explore the clinical and immunological efficacy of low-dose Interleukin-2 (IL-2) on idiopathic inflammatory myopathy (IIM).