View clinical trials related to Dermatomyositis.
Filter by:Purpose: The purpose of this protocol is 1. To comprehensively evaluate patients with autoinflammatory diseases clinically, genetically and immunologically at the autoinflammatory disease clinic at the NIH. 2. To follow patients with autoinflammatory Diseases that are genetically defined including Neonatal-Onset Multisystem Inflammatory Disease (NOMID), the most severe clinical phenotype of Cryopyrin-Associated Periodic Syndromes (CAPS), Deficiency of IL-1 Receptor Antagonist (DIRA), Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated temperatures (CANDLE), and STING-Associated Vasculopathy with onset in Infancy (SAVI), and those with genetically undefined autoinflammatory disorders to determine long-term disease outcomes. 3. To develop biomarkers that help us assess disease activity and response to treatment. 4. To assess the eligibility of affected patients for inclusion in ongoing and planned treatment protocols. Goal: The goals of our studies are to understand the underlying immune dysregulation, to identify the genetic cause and to translate our findings into novel treatments that improve patients disease outcome. Eligibility: - Patients with known NOMID/CAPS, DIRA, CANDLE, SAVI, CRMO, Still's Disease, and with other yet undifferentiated autoinflammatory diseases. - Healthy adult and pediatric relatives. - Volunteers Design: Participants will be evaluated at the NIH for 2-5 days. All participants will have a detailed medical history, physical exam, blood tests and other evaluations depending on the extend of their autoinflammatory disease. Participants may also expect the following assessments: 1. Clinical test that help assess organ damage and functional impact such as hearing vision, memory and learning tests. 2. Imaging studies to characterize the organ involvement of the inflammatory disease including: X-rays, CT scans, special MRIs, bone scans. 3. Laboratory evaluations including clinical markers of disease activity, research samples for genetic studies, and blood samples for cytokine/biomarker assessment, and gene expression profiling.<TAB> 4. Completion of questionnaires to assess disease activity and quality of life. 5. If indicated, other procedures may be administered that include: a lumbar puncture if CNS inflammation is suspected and a skin biopsy if skin inflammation is present. other gastrointestinal procedures as they are clinically indicated. 6. Patients my have a research skin biopsy taken. Participants may return for a single follow-up visits or for long term-follow up depending on their disease and willingness to be followed long-term. ...
Juvenile dermatomyositis (JDMS) is one of the most serious of the childhood rheumatic diseases. The theory behind this trial is that early introduction of etanercept or methotrexate will prove to be effective in the treatment of JDMS. Pretreatment muscle biopsies, we believe there will be abnormalities in the blood vessels that will be correlated with worse physical strength and daily functional ability. The long-term goal is to improve the treatment of this serious childhood onset rheumatic disease and to better understand the pathogenic mechanism for the development of the vasculopathy (disorder of blood vessels) of JDMS. Identification of the specific mechanism of the vasculopathy may allow for the rational introduction of biologic treatments focused on vascular growth.
This study will examine whether infliximab (Remicade ) is safe and effective for the treatment of dermatomyositis and polymyositis. Infliximab blocks the effect of a protein called tumor necrosis factor (TNF), which is associated with harmful inflammation in many diseases. Patients 18 years of age and older with active dermatomyositis or polymyositis that does not respond adequately to treatment with methotrexate and corticosteroids may be eligible for this study. Candidates will be screened with a medical history, physical examination, blood and urine tests, chest x-ray, pulmonary function test, skin test for tuberculosis, HIV test, electromyography (described below), manual muscle testing, and functional assessments. Magnetic resonance imaging (described below) will be done to assess the degree and location of inflammation in the involved limbs. An electrocardiogram and echocardiogram will be done if recent ones are not available. Patients who qualify for the study will be asked to undergo two muscle biopsies (surgical removal and analysis of small pieces of muscle tissue), one before initiation of treatment and another on the 16th week . Participants will be randomly assigned to receive either 3 mg/kg body weight of infliximab or a placebo (inactive substance) by infusion through a vein over 2 hours. The infusions will be given at the beginning of the treatment period (week 0) and at weeks 2, 6 and 14. At week 16, strength will be assessed by manual muscle testing. Patients who improved with treatment will continue with the same infusion dose on weeks 18, 22, 30, and 38. Those who do not improve will be assigned by random allocation to receive either 5 mg/kg body weight or 10/mg/kg body weight of infliximab on weeks 18, 22, 30 and 38. Those who did not improve who were previously on the placebo infusion will receive an extra dose of either 5 mg/kg or 10 mg/kg body weight of infliximab on week 16, while those patients who were previously on 3 mg/kg body weight of infliximab who failed to meet the improvement criteria will receive an infusion containing no medication on week 16. Patients will be admitted to the hospital for infusions at weeks 0, 14 and 38; the rest will be given on an outpatient basis. After the 38th week, all infusions will be stopped and patients will be assessed on the 40th week. Participants will undergo some or all of the following tests and evaluations during treatment: - Blood tests every week to look for antibodies seen with muscle inflammation. Some of the blood samples will be stored for later testing, including genetic studies to find genetic differences related to inflammation. - Skin test for tuberculosis - Chest x-rays at the beginning of the study (if a recent one is not available) and again at weeks 16 and 40 to look for active infection, detect signs of past exposure or infection with diseases such as tuberculosis, and assess the presence of lung disease that might be related to the myositis. - MRI (usually of the legs) at the beginning of the study and again at weeks 16 and 40 to measure disease activity and extent of muscle involvement. This will also give an idea of the response to treatment. This test uses a magnetic field and radio waves to produce images of body tissues. During the procedure the patient lies on a bed surrounded by a metal cylinder (the scanner). - Muscle biopsy at the beginning of the study to diagnose muscle inflammation and again at week 16 to evaluate the response to treatment. - Electromyography if the patient has not had an EMG previously. For this test, small needles are inserted into the muscle to assess the electrical activity of the muscle - HIV test Patients whose disease worsen with treatment or who develop serious drug-related side effects will be taken off the study and referred back to their primary care physician for further therapy. Patients who improve will be referred back to their primary physician at the end of the study for possible continued treatment. Participants will be asked to return for follow-up visits every 6 weeks for a total of 30 weeks to monitor long-term effects of the drug
This study will evaluate subjects with adult- and childhood-onset myositis to learn more about their cause and the immune system changes and medical problems associated with them. Myositis is an inflammatory muscle disease that can damage muscles and other organs, resulting in significant disability. Children or adults with polymyositis or dermatomyositis or a related condition may be evaluated under this study. Healthy children or adults will also be enrolled as "controls," for comparison of test results. All patients will undergo a complete history (including completing some questionnaires) and physical examination, review of medical records, and blood and urine tests. Patients may then choose to participate in an additional 1- to 5-day evaluation, which will include some or all of the following diagnostic, treatment or research procedures: 1. Standardized muscle strength testing, range of motion of joints and walking (gait) analysis by a physiotherapist; completion of a questionnaire regarding ability to perform daily tasks 2. Skin assessment, possibly including photographs of lesions and a skin biopsy (removal of a small skin sample under local anesthetic) 3. Magnetic resonance imaging (scans that use magnetic fields to visualize tissues) of leg muscles 4. Swallowing studies, including a physical examination and questionnaire on swallowing ability, studies of tongue strength, and ultrasound imaging during swallowing, and possibly, a modified barium swallow 5. Voice and speech assessment, possibly including computerized voice analysis and laryngoscopy-analysis of the larynx (voice box) using a small rigid scope with a camera placed in the mouth to view and record vocal cord function 6. Pulmonary function tests (measurement of air moved into and out of the lungs, using a breathing machine) to evaluate lung function and, possibly, chest X-ray 7. Electrocardiogram (measurement of the electrical activity of the heart) and, possibly, echocardiogram (ultrasound imaging of the heart) 8. Endocrine evaluation 9. Eye examination, in patients with vision loss or other eye symptoms 10. Nutrition assessment to evaluate muscle mass and muscle wasting, including tape measurements or bioelectric impedance testing, a painless procedure in which wires are attached to the extremities with a sticky paste. 11. Muscle ultrasound. 12. Electromyography (record of the electrical activity of muscles) 13. Muscle or skin biopsy (removal of a small piece of muscle tissue for microscopic examination) All patients may have only a one-time evaluation or may return for one follow-up evaluations (either the 1-day or 3- to 5-day evaluation) over a 1-year period. Healthy children will undergo a medical history and brief physical examination; blood and urine tests; speech and swallowing studies including questionnaires and physical examination, tongue strength, and ultrasound study; and bioelectric impedance testing. Children 8 to 18 years old may also have exercise testing.
OBJECTIVES: I. Determine the safety and long term complications of total body irradiation in combination with cyclophosphamide, anti-thymocyte globulin, and autologous CD34-selected peripheral blood stem cell (PBSC) transplantation in children with refractory autoimmune disorders. II. Determine the efficacy of this treatment regimen in these patients. III. Determine the reconstitution of immunity after autologous CD34-selected PBSC transplantation in these patients. IV. Determine engraftment of autologous CD34-selected PBSC in these patients.
This study will evaluate the safety and effectiveness of the experimental drug h5G1.1-mAb in treating patients with dermatomyositis. This disease, which causes skin rash, muscle weakness, and sometimes various other symptoms, may be due to an immune system abnormality. Drugs currently used to treat dermatomyositis, such as prednisone and various anticancer drugs, often have serious side effects and may not work in all patients. h5G1.1-mAb is a genetically engineered antibody that blocks the activity of certain proteins involved in the immune reaction that produces inflammation. Patients age 18 years and older who have had dermatomyositis for at least 6 months and who have not improved with prednisone or other therapies, or who cannot tolerate prednisone or other therapies, may be eligible for this 12-week study. Candidates will have a history and physical examination, including blood and urine tests, throat culture, and muscle strength testing. Participants will be randomly assigned to receive either h5G1.1-mAb or placebo (an inactive substance). The drug or placebo will be given intravenously (through a thin tube inserted into a vein) once a week for five doses and then every other week for two more doses. Participants will undergo the following additional tests at various intervals during the study as follows: 1. Complete physical examination ( visit 9) 2. Blood and urine tests (various intervals) 3. Muscle strength testing, assessment of ability to perform daily tasks, and completion of questionnaire regarding functional abilities (visits 2, 6 and 9) 4. Ultrasound imaging of muscle (during certain muscle exercises) (visits 2, 6 and 9) 5. Electrocardiogram (EKG) (visits 2 and 9) 6. Throat swab (culture) (visit 6) 7. Examination and photography of skin lesions (visits 2 and 9) 8. Skin biopsy - removal of small sample of skin tissue under local anesthetic (visits 2 and 9) 9. Magnetic resonance imaging (MRI) scan of muscles (visits 2 and 9) 10. Possible muscle biopsy - removal of small sample of muscle tissue under local anesthetic (visits 2 and 9).
Juvenile dermatomyositis (JDM) is a connective tissue disease that causes skin rash and weak muscles in children. The purpose of this study is to measure the absorption of oral prednisolone and intravenous (IV) methylprednisolone and to determine levels of disease activity indicators in the blood. These levels will be compared to see if there are patterns specific to active and less active JDM.
This study will test the safety and effectiveness of the drug methimazole in treating polymyositis and dermatomyositis-inflammatory muscle diseases causing weakness and muscle wasting. Although it is not known what causes of these diseases, abnormal immune function is thought to be involved. Recent studies indicate that methimazole, which has been used for many years to treat thyroid disease, may alter immune activity by affecting the interaction between white blood cells called lymphocytes and certain molecules on cell surfaces. This study will examine the effects of methimazole on immune activity and muscle strength in patients with inflammatory muscle diseases and evaluate the drug side effects. Patients with polymyositis and dermatomyositis who have normal thyroid function may be eligible for this study [age requirement?]. Candidates will undergo a history and physical examination; blood and urine tests; chest X-ray; muscle strength testing, daily living skills questionnaire, and speech and swallowing evaluation; magnetic resonance imaging of muscles; and muscle biopsy (removal of a small piece of muscle tissue under local anesthetic). When indicated, some candidates may also have cancer screening tests (for example, mammogram, Pap smear), a lung function test to measure breathing capacity, or an electromyogram, in which small needles are inserted into a muscle to measure the electrical activity . Participants will take 30 mg of methimazole by mouth twice a day for 6 months. They will have blood tests weekly for the first 2 weeks and then every other week for the rest of the study to measure blood counts and liver and thyroid function. Blood will also be drawn for white blood cell studies during the screening evaluation, at the beginning of therapy, 6 to 12 weeks after therapy starts, at the end of the 6-month treatment period, and 1 and 3 months after therapy ends. Muscle enzyme and urine tests will be done once a month.. During drug treatment, patients will have periodic physical examinations and blood and muscle function tests to evaluate the response to therapy.
The purposes of this study are to identify gene mutations in patients with the muscle diseases phosphofructokinase (PFK) deficiency, acid maltase deficiency (GAA deficiency) and to learn more about how these diseases develop. PFK deficiency is a mild, exercise-related illness. The childhood form of GAA deficiency (Pompe disease) affects the heart and liver and is rapidly fatal. The adult form begins in midlife and involves degeneration of skeletal muscles, leading to weakness and muscle wasting. The following groups of individuals may be eligible for this study: Group A: Patients with PFK deficiency, acid maltase deficiency, and relatives who also are affected. Participants in this group will undergo a brief medical and family history, blood sample collection, and possibly a physical examination, review of medical records, and interview with the patient's physician. Group B: Unaffected family members of patients in group A, including both blood relatives and spouses. People in this group may be asked to provide a history and genetic information. A review of medical records, interview with the individual's physician, and blood sample may also be requested. Group C: Control subjects. This group will provide a small blood sample or buccal mucosal sample (tissue sample collected by brushing the inside of the cheek). The samples will be coded and the investigators will not know the participants' identities. DNA from these samples will be analyzed for frequency of gene mutations. Genetic counseling will be arranged for patients, as appropriate.
This study of inflammatory muscle diseases-polymyositis and dermatomyositis and related disorders-will examine what causes these diseases and describe the clinical features (signs and symptoms) associated with them. Inflammation and degeneration of skeletal muscles in these disorders leads to weakness and muscle wasting. The skin, lungs and other organs may also be involved. Patients 16 years of age and older with polymyositis, dermatomyositis, or a related disorder may be eligible for this study. Participants will undergo a complete history and physical examination, including routine blood and urine tests. Additional procedures for diagnosis, treatment or research may include: 1. Blood sample for genetic studies. 2. Muscle biopsy-removal of a tissue sample for microscopic examination. Under local anesthetic, a 1/2- to 1-inch long incision is made in the thigh or upper arm, and a small piece of muscle is removed. 3. Electromyography-measurement of the electrical activity of a muscle. A needle is inserted through the skin into a muscle to record its electrical activity. 4. Magnetic resonance imaging-visualization of organs or tissues, using a magnetic field and radio waves. The patient lies on a table inside a narrow cylinder (the MRI scanner) with a strong magnetic field for the scanning. 5. Manual muscle strength testing by a physiotherapist. 6. Swallowing studies using ultrasound (imaging using sound waves) and X-rays (barium swallow) to evaluate swallowing and speaking abilities. 7. Questionnaires on swallowing ability and ability to perform daily living activities 8. Pulmonary function tests-measurement of movement of air in and out of the lungs. The patient breathes into a machine to evaluate lung function. 9. Chest X-rays to evaluate lung function. 10. Electrocardiogram and, if necessary, Holter monitoring (measurement of the electrical activity of the heart) and echocardiogram (ultrasound imaging of the heart) to evaluate heart function. 11. Apheresis-collection of white blood cells for research. Whole blood is collected through a needle placed in an arm vein. The blood circulates through a machine that separates it into its components. The white cells are removed and the rest of the blood is returned to the body through the same needle or through a second one placed in the other arm. 12. MR guided muscle biopsy-measurement of glycogen in muscle tissue using magnetic resonance imaging. Certain patients may undergo this experimental procedure to compare MRI findings with those of muscle biopsy. The affected muscles are identified using MRI and the biopsy incision is made. MRI is then used to guide the biopsy needle to the muscle and a small piece is removed. Patients who are eligible for experimental treatment studies will be offered the opportunity to join them. Others will be advised of treatment recommendations.