Active clinical trials for "Muscular Diseases"

Background: Dermatomyositis (DM) and juvenile dermatomyositis (JDM) cause inflammation in the muscles. People with DM and JDM can develop calcium deposits in places they should not, known as calcinosis. Calcinosis can be painful and cause disabilities and other problems. Researchers want to learn more about calcinosis to find treatments for it. Objective: To test if sodium thiosulfate (STS) can treat people with DM with calcinosis. Eligibility: People ages 7 and older who have moderate or severe calcinosis. They must have stable DM and calcium deposits in the torso or at least 2 limbs. Design: Participants will be screened with: Medical history Physical exam Muscle strength and function tests Blood and urine tests Participants will have several visits: 7-day pre-treatment visit about 10 weeks before starting STS Treatment visits over 10 weeks. They will get STS 3 times a week through IV infusion. They may be hospitalized the whole time. If they tolerate the drug, they may be discharged at certain times. During these times, they will return for the infusions. 3- to 5-day post-treatment visits 24 weeks and 62 weeks after starting STS. Visits may include repeats of screening tests and: Questionnaires Scans: They lie in a machine that takes pictures of the body. They may be injected with a radioactive agent. Durometry: A small instrument applies pressure on the skin or exposed calcinosis. Measurements of blood flow in the arms and fingernail blood vessels Photographs of the skin Kidney ultrasound Tests of kidney function Calcinosis aspiration: A needle placed into areas of calcinosis removes liquid.

This study corresponds to a monocentric prospective cohort of adult patients presenting a suspicion of idiopathic inflammatory myopathy. It will allows the constitution of an organized collection of longitudinal clinical data as well as collection of biological samples, including blood sample, urine, stool and muscle specimen.

Background: - GNE Myopathy is a disease that causes walking difficulties and increasing muscle weakness. It usually develops in young adults (between 20 and 30 years of age), and affects arm and leg muscles. HIBM is caused by mutations in a gene that may affect how the muscles function. Researchers want to learn more about the causes, symptoms, and effects of HIBM. Objectives: - To collect genetic and medical information from people with GNE Myopathy . Eligibility: - Individuals between 18 and 80 years of age who have GNE Myopathy and do not use a wheelchair. - Participants must be willing to stop any current treatment of HIBM while enrolled in the study. Design: Participants will be screened with a medical history, physical exam, and neurological exam. At the first visit, participants will have the following tests: Questionnaires about the impact of HIBM on daily activities, mood, and quality of life 24-hour urine collection Blood samples Heart function tests Muscle strength and endurance tests, including walking Imaging study of the muscles Participants will return for followup visits at 6, 12, and 18 months. They may be asked to return for a final visit at 24 months. Not all tests will be performed at each visit. Treatment will not be provided as part of this protocol. For more information, visit our website: http://hibmstudy.nhgri.nih.gov/

Background: - Some nerve and muscle disorders that start early in life (before age 25), like some forms of muscular dystrophy, can run in families. However, the genetic causes of these disorders are not known. Also, doctors do not fully understand how symptoms of these disorders change over time. Researchers want to learn more about genetic nerve and muscle disorders that start in childhood by studying affected people and their family members, as well as healthy volunteers. Objectives: - To better understand nerve and muscle disorders that start early in life and run in families. Eligibility: Individuals at least 4 weeks old with childhood-onset muscular and nerve disorders, including those who have a later onset of a disorder that typically has childhood onset. Affected and unaffected family members of the individuals with muscular and nerve disorders. Healthy volunteers at least 4 weeks old with no nerve or muscle disorders. Design: Participants will be screened with a physical exam and medical history. Genetic information will be collected from blood, saliva, cheek swab, or skin samples. Urine samples may also be collected. Healthy volunteers and unaffected family members will have imaging studies of the muscles. These studies will include magnetic resonance imaging (MRI) and ultrasound scans. Results will be compared with those from the affected participants. All participants with nerve and muscle disorders will have multiple tests, including the following: Imaging studies of the muscles, including ultrasound and MRI scans. Imaging studies of the bones, such as x-rays and DEXA scans. Heart and lung function tests. Eye exams. Nerve and muscle electrical activity tests and biopsies. Video and photo image collection of affected muscles. Speech, language, and swallowing evaluation. Lumbar puncture to collect spinal fluid for study. Tests of movement, attention, thinking, and coordination. Participants with nerve and muscle disorders will return to the Clinical Center every year. They will repeat the tests and studies at these visits....

The Congenital Muscle Disease Patient and Proxy Reported Outcome Study (CMDPROS) is a longitudinal 10 year study to identify and trend care parameters, adverse events in the congenital muscle diseases using the Congenital Muscle Disease International Registry (CMDIR) to acquire necessary data for adverse event calculations (intake survey and medical records curation). To support this study and become a participant, we ask that you register in the CMDIR. You can do this by visiting www.cmdir.org. There is no travel required. The registry includes affected individuals with congenital muscular dystrophy, congenital myopathy, and congenital myasthenic syndrome and registers through the late onset spectrum for these disease groups. The CMDIR was created to identify the global congenital muscle disease population for the purpose of raising awareness, standards of care, clinical trials and in the future a treatment or cure. Simply put, we will not be successful in finding a treatment or cure unless we know who the affected individuals are, what the diagnosis is and how the disease is affecting the individual. Registering in the CMDIR means that you will enter demographic information and complete an intake survey. We would then ask that you provide records regarding the diagnosis and treatment of CMD, including genetic testing, muscle biopsy, pulmonary function testing, sleep studies, clinic visit notes, and hospital discharge summaries. Study hypothesis: To use patient and proxy reported survey answers and medical reports to build a longitudinal care and outcomes database across the congenital muscle diseases. To generate congenital muscle disease subtype specific adverse event rates and correlate with key care parameters.

Systemic sclerosis and inflammatory myopathies, which sometimes combine (scleromyositis), have shared pathophysiological elements. In both diseases, many cell subtypes are involved in damage to organs such as T lymphocytes, B lymphocytes, and unconventional (non-B, non-T) lymphocytes called innate lymphoid cell (ILC). The increasing complexity of our understanding of the immune system (multiplication of recognized cell subtypes) also makes the strategies for analyzing pathophysiological mechanisms more complex. Currently, no biomarker perfectly predicts the phenotype and evolution of patients. Multi-OMIC analyzes will be performed (identification of cell populations as well as genomic, transcriptomic and proteomic characterization) in blood and tissue samples (skin and muscle biopsy) in patients with systemic sclerosis and inflammatory myopathies, with the objective of identifying discriminating molecular signatures (biomarkers) according to the characteristics of the disease and its evolution.

The Global Registry for COL6-related dystrophies (www.collagen6.org) is a database for individuals who have been diagnosed with Bethlem Myopathy, Ullrich Congenital Muscular Dystrophy (UCMD) or an intermediate form of these diseases. The registry team is based at the John Walton Muscular Dystrophy Research Centre at Newcastle University, UK and is part of the TREAT-NMD alliance global network of registries. The registry has been developed in partnership with a number of leading neuromuscular researchers and is funded by the Collagen VI Alliance. This patient registry will: Help identify patients for relevant clinical trials as they become available Encourage further research into Collagen 6-related dystrophies Provide researchers with specific patient information to support their research Assist doctors and other health professionals by providing them with up-to-date information on managing Collagen 6- related dystrophies, to help them deliver better standards of care for their patients The investigators welcome the registration of: ✓ All patients, with a diagnosis of a COL6-related dystrophy (Bethlem Myopathy, Ullrich Congenital Muscular Dystrophy or Intermediate form) , which has been confirmed via genetic testing or muscle biopsy.

This is a longitudinal study in a cohort of patients with a genetic diagnosis of Primary Mitochondrial Myopathy to describe the natural history of the disease and identify clinical, biochemical, molecular, and radiological variables that allow evaluation of the severity and progression of the disease and may be useful in future clinical trials.

This study is designed to learn more about the natural history of inherited neurological disorders and the role of heredity in their development. It will examine the genetics, symptoms, disease progression, treatment, and psychological and behavioral impact of diseases in the following categories: hereditary peripheral neuropathies; hereditary myopathies; muscular dystrophies; hereditary motor neuron disorders; mitochondrial myopathies; hereditary neurocognitive disorders; inherited neurological disorders without known diagnosis; and others. Many of these diseases, which affect the brain, spinal cord, muscles, and nerves, are rare and poorly understood. Children and adults of all ages with various inherited neurological disorders may be eligible for this study. Participants will undergo a detailed medical and family history, and a family tree will be drawn. They will also have a physical and neurological examination that may include blood test and urine tests, an EEG (brain wave recordings), psychological tests, and speech and language and rehabilitation evaluations. A blood sample or skin biopsy may be taken for genetic testing. Depending on the individual patient s symptoms, imaging tests such as X-rays, CT or MRI scans and muscle and nerve testing may also be done. Information from this study may provide a better understanding of the genetic underpinnings of these disorders, contributing to improved diagnosis, treatment, and genetic counseling, and perhaps leading to additional studies in these areas. ...

The objective of this study is to evaluate acute changes of cardiac troponin (and other cardiac biomarkers) and mid-term biovariability in patients with cardiomyopathy associated with chronic skeletal muscle disease. The specific aims of the study are: Firstly, to evaluate the feasibility of the ESC 0/1 hour protocol for rule-in and rule-out of a non-ST-segment elevation acute coronary syndrome (NSTE-ACS). Secondly, a) to determine reference change values (RCV) to characterize physiological biovariability, b) to differentiate acute from chronic high-sensitivity cardiac troponin T (hs-cTnT) elevations.