Active clinical trials for "Muscular Diseases"

To evaluate specific characteristics of phenotype, immune status, molecular and genetic as well as morphological characteristics of adult patients with limb-girdle muscular dystrophy R2 in various regions of the Russian Federation.

Background: Most people who are referred to the EMG (Electromyography) Section of the NIH are enrolled into specific active studies. This allows researchers to learn about a range of rare neuromuscular disorders. But study criteria may not give researchers the chance to evaluate a single person or study a common symptom. Therefore, researchers want to assess people with neuromuscular disorders who are not currently enrolled in any NIH studies. They will perform tests on these individuals in the EMG Lab. Then they will create a repository of data that may be used for future research. This will help them learn more about these disorders. Objective: To retain data that is collected as part of participant visits to the NIH. Eligibility: People aged 18 and older who will be visiting the NIH for evaluation of their neuromuscular disorder. Design: Participants will be screened with a medical record review. Participants will have a physical exam. They will be evaluated for their neuromuscular disorder. They may have tests to learn more about how their nerves and muscles work that are called nerve conduction and EMG studies. Their muscles and nerves may be assessed with an ultrasound. Their ability to sweat may be measured. Their heart rate and blood pressure may be taken. Changes to their breathing or changes in their body position may be measured. Participant data will be given a unique numerical identifier that can be used if the data is shared. Data will be stored on a server and in a database. Participants will have 1-2 visits. Each visit will last less than 4 hours. They may be contacted for a follow-up visit.

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.

In this mono-center pilot trial, surgical patients who are at high risk to be admitted to intensive care will be screened and asked for participation. We are going to take blood and muscle samples at respecified time points to do metabolic, histological and molecular testing. Aim of the study is to investigate (1) changes of the blood metabolome in patients with ICUAW (intensive care unit acquired weakness) and (2) identify metabolic components who are responsible for ICUAW or can be used as marker for ICUAW.

The goal of this observational study is to assess if diabetes and obesity are independently related to functional and structural muscle deficits, and how muscular deficits relate to metabolic properties of diabetes and obesity. All studies will include clinical muscle strength and contractile examinations, functional tests, and MR imaging and spectroscopy techniques. The main questions this project aims to answer are: Is chronic hyperglycemia in type 1 and 2 diabetes associated with functional and structural deficits of skeletal muscles unrelated to the presence of neuropathy? Is obesity associated with functional and structural impairments of skeletal muscles unrelated to the presence of type 2 diabetes ? Does weight loss improve muscle metabolic flexibility and economy and modify skeletal muscle function and structure in obese subjects with and without type 2 diabetes? The project will include three studies, intended to answer the hypotheses listed above: Study 1: Evaluation of functional and structural muscular deficits of diabetic myopathy in relation to prolonged hyperglycemia prior to and 6 months following glycemic improvement in patients with type 1 and 2 diabetes Study 2: Functional and structural muscular deficits in severely obese subjects with and without type 2 diabetes prior to assisted weight loss. Study 3: Changes in functional and structural muscle properties following assisted weight loss in severely obese subjects with and without type 2 diabetes - a 1-year follow-up study.

Objective: To collect information and biospecimens (such as blood, muscle, and skin samples) that will be used to research causes and treatments of inflammatory muscle diseases. Eligibility: People aged 12 years and older with suspected or confirmed inflammatory muscle disease. Healthy volunteers aged 18 years and older are also needed. Design: Participants will have at least 1 clinic visit. Each visit will last 4 to 8 hours. Some may return for additional visits. All participants will undergo these procedures (unless they are unable to): Physical exam, including blood and urine tests. Magnetic resonance imaging (MRI) scan of the thigh. Participants will lie still on a table with padding around 1 thigh. The table will slide into a tube. The scan will last for approximately 40 minutes. Some procedures are optional: Muscle biopsy. An area of skin will be numbed. A quarter-inch cut will be made. Several pieces of muscle tissue, about the size of grains of rice, will be removed. Skin biopsy. An area of skin will be numbed. A piece of skin about a quarter inch in diameter will be removed. Genetic testing. Some of the samples collected may be used for genetic testing.

Investigators have assembled an existing infrastructure of physical therapists, clinical coordinators and Bioinformatics; as well as expertise in developing and validating tools to measure disease course in a longitudinal study, to support completion of the proposed studies. Aim 1 serves to validate the Mitochondrial Myopathy Objective Assessment Tool (MM-COAST) and Mitochondrial Myopathy Functional Scale (MMFS) in nucleotide-binding protein-like (NUBPL)-subjects. Aim 2 aims to devise a Primary Mitochondrial Diseases (PMD)-specific cerebellar ataxia outcome measure for future clinical trials. Nucleotide-binding protein-like (NUBPL)-Natural history data will be used to inform future interventional clinical trial design, while the validated MM-COAST, Mitochondrial Myopathy Rating Scale (MMRS) and newly devised PMD-ataxia scale would be utilized as meaningful quantitative outcome measures in future NUBPL-multicenter natural history and clinical trials.

This study is evaluating the use of two painless, non-invasive technologies in the assessment of muscle health over time in both healthy volunteers and patients who have diseases that affect the nervous system.

Exertional symptoms are the hallmarks of metabolic myopathies, supporting the concept of using functional tests when this diagnosis is suspected. Exercise increases the concentration of muscle metabolites in the venous blood supply (e.g. lactate, pyruvate, and ammonia) especially during recovery. The purpose of this study is to compare the results of exercise testing with to the data from muscle biopsy or genetic analysis.

CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access. Visit sanfordresearch.org/CoRDS to enroll.