Clinical Research Directory

Muscle Health Measurements Using Electrical Impedance Myography

This study is being done to further develop a device, the mScan, to measure muscle health as compared to measurements of muscle health using MRI (magnetic resonance imaging). This device is held against the skin and uses Electrical Impedance Myography (EIM). EIM uses a very small, noninvasive (e.g. no needles), brief (about 6 seconds), and painless electrical current to measure the muscle. The investigators will look at how the mScan predicts the muscle measurements seen on MRI in people with and without muscle disease. The investigators hope that this can be used in the future as a quick, convenient and less time-consuming way than MRI to assess muscle health. This could be used to measure how well treatments for different muscle disorders are working over a period of time.

Critical Illness Myopathy as a Cause of Debilitating ICU-Acquired Weakness

ICU-acquired weakness represents a common and often devastating disease process which affects greater than 50% of critically ill patients. This pathogenesis of this acquired disease is multifactorial and results in variable severity, ranging from mild, transient to severe, permanent dysfunction of peripheral nerves in additional to muscle. In affected patients, weakness may persist for months to years after the acute phase of their illness, and has been implicated as a major contributor to decreased functional status and quality of life. Muscle ultrasound has been validated for assessment of muscle size as well as diagnosis of myopathic and neuropathic changes in patients with other known neuromuscular diseases. The use of muscle ultrasound or other imaging modalities for diagnosis or monitoring of ICU-acquired weakness has not been studied, although a single study using muscle ultrasound has shown significant change in muscle size in ICU patients receiving high dose corticosteroids and a prolonged course of paralytic agents. The investigators plan to use multiple modalities to examine skeletal muscle catabolism, function, and structure in patients during critical illness and recovery. The investigators will combine physical exam, hand grip dynamometry, electrophysiologic studies, serum biomarkers, muscle biopsies, and muscle ultrasound to assess a group of critically ill patients during their hospital stay. The investigators will obtain additional data, including neuropsychiatric assessments, severity of illness scores, administration of potentially harmful medications, and pertinent daily laboratory data. This study will last approximately 12 months.

Characterization of Inclusion Body Myopathy Associated With Paget's Disease of Bone and Frontotemporal Dementia (IBMPFD)

The investigators are researching families with inherited inclusion body myopathy (IBM) and/or Paget disease of bone (PDB) and/or dementia (FTD) which is also called IBMPFD. IBMPFD is caused by mutations in the VCP gene. Our main goal is to understand how changes in the VCP gene cause the muscle, bone and cognitive problems associated with the disease. The investigators are collecting biological specimen such as blood and urine samples, family and medical histories, questionnaire data of patients with a personal or family history of VCP associated disease. Participants do not need to have all symptoms listed above in order to qualify. A select group of participants may be invited to travel to University of California, Irvine for a two day program of local procedures such as an MRI and bone scan. Samples are coded to maintain confidentiality. Travel is not necessary except for families invited for additional testing.

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

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.

Repeated Bout Effect i Neuromuscular Diseases

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.

WiTNNess - TNNT1 Myopathy Natural History Study

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).

Chronic Transcranial Direct Current Stimulation in Patients With Systemic Autoimmune Myopathies

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.

Acute Transcranial Direct Current Stimulation in Patients With Systemic Autoimmune Myopathies

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.