Active clinical trials for "Myositis, Inclusion Body"

IBM is the most common acquired muscle disease occurring over the age of 50. The underlying cause remains unknown and there is currently no effective treatment. Pathological studies have revealed abnormal collections of proteins in the muscle cells from patients with IBM. These include proteins called phosphorylated tau (p-tau). A similar process appears to occur in Alzheimer disease, with accumulations of p-tau developing in brain cells. Lithium decreases the activity of the GSK, an enzyme that has a key role in the development of p-tau. Lithium and other GSK inhibitors have been shown to decrease the accumulation of p-tau in nerve cells in animal models of Alzheimer disease. The proposed research is a pilot study to see if lithium might be an effective treatment for IBM

The primary aim of this study is to assess the changes in the impedance parameters of muscles in inclusion body myositis (IBM) through electrical impedance myography (EIM), an emerging non-invasive electrodiagnostic technology. Muscle impedance parameters can potentially serve as an objective biomarker reflecting disease progression and severity.

This study will examine the abnormal immune response in patients with sporadic inclusion body myositis (s-IBM)-the most common inflammatory muscle disease in people over the age of 50. s-IBM progresses steadily and may lead to severe weakness and wasting of arm and leg muscles. Patients may become unable to perform daily living activities and be confined to wheelchairs. s-IBM is thought to be an autoimmune disease, in which the body's own immune system attacks healthy muscles. This study will explore the causes of the muscle tissue inflammation that is responsible for destruction of muscle fibers and weakness in this disease. Information from the study may help in the development of an effective treatment for this disease. Patients with s-IBM may be eligible for this study. Those who are unable to travel or who have severe cardiovascular, renal or other end-stage organ disease will be excluded. Candidates will be screened for eligibility with a medical history and physical and neurological examinations. Participants will be seen at the NIH Clinical Center every six months over a 12-month period (visits at enrollment, 6 months and 12 months) either on an inpatient or outpatient basis, depending on their disease severity. Each 2- to 3-day visit will involve the following tests and evaluations: Blood samples for routine laboratory tests are collected at every visit. Additional blood for research studies is collected at 12 months. Quantitative muscle strength testing is done at every visit. The patient pulls against straps connected to dynamometers (devices that measure muscle power) to evaluate strength of the main muscle groups in the arms and legs. Lymphapheresis is done at enrollment and at 12 months. This is a procedure for collecting quantities of lymphocytes (white blood cells that are an important part of the immune system). Blood is collected through a needle placed in an arm vein and circulated through a machine that spins it, separating it into its components. The lymphocytes are removed and the rest of the blood (red cells, platelets and plasma) is returned to the body through the same needle or another needle placed in the other arm. Electrophysiologic studies (electromyography and nerve conduction testing) are done at enrollment and 12 months. Electromyography evaluates the electrical activity of muscles. A small needle is inserted into the muscle and the patient is asked to relax or to contract the muscle. For nerve conduction testing, nerves are stimulated by electrodes (small wires taped to the skin over the muscle). Muscle biopsy is done at enrollment and 12 months. A sample of muscle tissue (about the size of a lima bean) from an arm or leg is surgically removed to confirm the diagnosis of s-IBM and for analysis of proteins involved in the muscle inflammation process. A local anesthetic is used to numb the area before the surgery and the wound is closed with stitches.

The primary aim is to characterize the prevalence, severity and quality of musculoskeletal nociceptive pain in adult patients with neuromuscular disorders (NMD). The secondary objectives are to evaluate whether severity and distribution of muscle pain is associated with muscle function, and to assess whether muscle pain is associated with alterations of muscle elasticity and muscle stiffness. Results of patients with neuromuscular disorders will be compared to age- and gender-matched healthy volunteers. Approx. 70 patients with neuromuscular disorders and 20 healthy volunteers will be enrolled, including patients with the following neuromuscular disorders: histologically confirmed inclusion body myositis (IBM), genetically confirmed late-onset Pompe disease (LOPD), genetically confirmed spinal muscular atrophy type 3 (SMA3), genetically confirmed facio-scapulo-humeral muscle dystrophy (FSHD), genetically confirmed myotonic dystrophy type 1 or type 2 (DM1, DM2). The duration of patient recruitment will be around 12 months.

So far, only limited data is available regarding the natural course in Congenital Cataract Facial Dysmorphism Neuropathy Syndrome (CCFDN) and sporadic and hereditary inclusion body myopathies (IBM). Several criteria and outcome measures have led to contradicting results. The investigators want to retrospectively assess the natural course of the disease in CCFDN and IBM patients according to the data recorded during clinical routine visits.

Comparison of a group of 20 IBM patients with 20 controls matched on age, gender and weight.

Sporadic inclusion body myositis (sIBM) is a rare idiopathic inflammatory myopathy characterized by chronic proximal leg and distal arm asymmetric muscle weakness. Its prevalence is estimated between 10 and 100 cases per million, over the age of 50. Little is known about the natural course of the disease, the delay between onset and diagnosis, the patterns of disease management and treatment in routine practice, as well as the burden for patients. The objectives of the PGRx-sIBM study will be to describe: The epidemiology of the disease (estimation of the prevalence, age at onset, delay between onset and diagnosis, diagnosis process, etc.) The patterns of disease management and treatment in routine practice The burden of the disease for patients and their informal caregiver, as well as the quality of life of patients The burden of the disease for informal caregivers This will be an observational (non-interventional), cross-sectional (transversal) study. Study setting The PGRx-sIBM will take place in France, Italy, Switzerland and Spain. Recruitment centers will be public and private practices and hospitals from urban or rural areas. In each recruitment center, at least one physician will act as a study investigator, in charge of identifying and recruiting patients. Inclusion of patients Patients will be included by their specialized physician (neurologist, Internal Medicine) during a regular outpatient visit, provided that they meet the following inclusion criteria: The patient has been diagnosed with sIBM, as per the physician judgement and regardless of the date of diagnosis Male or female Age ≥ 45 years old The patient does regularly live in the country of inclusion The patient or his/her proxy can read and respond to a telephone interview The patient agrees to participate Exclusion criteria will be: The patient refuses to participate or the written Consent Form is not signed The patient or his/her proxy cannot be reached by telephone. All eligible patients will be invited to participate in the study, during a 3 to 6-month period of time. The target sample size will be of 190 patients (≈15-20 in Switzerland, ≈50 in Spain, ≈50 in Italy and ≈70-75 in France).