myoARRAY and TcLandscape Analysis for the Diagnosis of Inflammatory Myopathies
PolymyositisDermatomyositisThe diagnosis of the different forms of inflammatory myopathies (polymyositis, dermatomyositis, inclusion-body myositis...) remains difficult which may lead to unappropriate patient care. Objective 1 : to develop and evaluate the diagnostic value of a dedicated DNA-array (myoARRAY) for adult-onset muscular diseases with focus on inflammatory myopathies. Objective 2 : to evaluate the diagnostic value of T cell repertoire (TcLand) analysis to distinguish different forms of inflammatory myopathies.
Predictor of Clinical Response to Acthar in Myositis
MyositisDermatomyositis1 moreComparing the clinical effects of Acthar Gel before and after treatment and compare it to patients with inactive disease.
Ultrasound Evaluation of Tongue Movements in Speech and Swallowing
Otorhinolaryngologic DiseaseOtorhinolaryngologic Neoplasm3 moreThis study will assess the use of ultrasound-a test that uses sound waves to produce images-as a diagnostic tool for evaluating speech and swallowing. The following categories of individuals may be eligible for this study: 1) healthy volunteers between 20 and 85 years old with normal speech and hearing, 2) patients 6 to 85 years old with developmental neurological deficits in speech or swallowing, and 3) patients with tumors of the oral cavity, pharynx or larynx being treated at the Greater Baltimore Medical Center. Participants will undergo a 30-minute speech and oral motion evaluation, in which they imitate sounds, words and oral movements while a speech pathologist evaluates their lip, tongue and palate movements. They may also be asked to drink a small amount of water for examination of swallowing function. For the ultrasound examination, a 3/4-inch transducer (device for transmitting and receiving sound waves) is placed under the participant's chin. While the transducer is in place, the subject 1) repeats sounds and a series of syllables in several sequences, 2) swallows three times with and without a small amount of water, and 3) swallows 3 teaspoons of non-fat pudding. The ultrasound images are recorded on tape for later analysis.
A Survey for Long-term Use of Prograf Capsules in Patient With Interstitial Pneumonia
Interstitial Pneumonia Associated With Polymyositis/DermatomyositisThis study is to evaluate the safety and the efficacy of Prograf in patients with interstitial pneumonia associated with polymyositis / dermatomyositis in acute clinical setting.
Outcome in Patients With Recent Onset Polymyositis and Dermatomyositis
PolymyositisDermatomyositisMost patients respond to medical treatment with corticosteroids and immunosuppressive treatment, but a majority of patients develop sustained muscle impairment. The aim of this study was to evaluate the outcome of muscle endurance assessed with the Functional Index-2 (FI-2), muscle strength assessed by the MMT-8 and disease activity assessed by the six item core set at 6 and 12 months following diagnosis in patients with polymyositis (PM) and dermatomyositis (DM). 72 patients diagnosed with probable or definite PM or DM 2003-2010 who performed the FI-2 and the MMT at the time of diagnosis were included in this Swedish Myositis Register study. All patients had performed both the Functional Index-2 assessing muscle endurance and the Manual Muscle test (MMT) assessing isometric muscle strength. Physician Global assessment based on the evaluation of the consensus recommended six item core set for disease activity assessment was also included. Data were analysed on group levels as well as with criteria for individual responder criteria. A responder was identified as improving at least 20 % compared to baseline.
Spontaneous Coronary Artery Dissection (SCAD) and Autoimmunity
SCADAddison Disease28 moreThis case control study aims to determine whether spontaneous coronary artery dissection (SCAD) is associated with autoimmune diseases and to update the incidence of SCAD in a population-based cohort.
Study of the Prevalence of Polymyositis and Dermatomyositis in Normandy
PolymyositisDermatomyositisPolymyositis and dermatomyositis are characterized by the association to a myopathic syndrome, inflammatory infiltrates in the skeletal muscle. They remain, even today, an important factor of morbidity and mortality in these patients. At present, studies that evaluated the prevalence of polymyositis / dermatomyositis are very few; they were mainly recorded in the United States and Japan, the prevalence of polymyositis / dermatomyositis has been estimated between 3.5 and 21.5 cases / 100 000 (according to the old diagnostic criteria of Bohan and Peter). However, previous works are old and retrospective; above all, they have almost always been performed (90% of cases) from cases reported to the hospital, leading to selection bias and an underestimate of the true prevalence of polymyositis / dermatomyositis in the general population. Thus, these data lead to achieve this epidemiological study, descriptive, multicenter, based on the population of Normandy.
Hand Function in Patients With Poly- or Dermatomyositis
PolymyositisDermatomyositisThe aim of this study is to investigate the hand function in patients with poly-and dermatomyositis and compare this to healthy individuals and norm values and secondly if hand function correlates to activity performance and health related quality of life. The study is a cross-sectional study. To assess hand function the investigators will measure grip force with Grippit and arm/hand mobility using EPM-ROM scale. The activity performance will be measured with Myositis Activities Profile and health related quality of life will be assessed with SF-36. The investigators' hypothesis is that hand function is reduced in comparison to the healthy population and that hand function affects both activity performance and health related quality of life.
Studies of the Natural History and Pathogenesis of Autoimmune/Connective Tissue Diseases
Autoimmune/Connective Tissue DiseasesIdiopathic Inflammatory Myopathies2 moreThis study will define the major genetic risk and protective factors for idiopathic inflammatory myopathies (IIM), a group of immune disorders affecting connective tissues such as muscles. It will also identify new environmental risk factors for IIM and identify immune responses in myositis and related diseases. There are many forms of IIMs, and the causes of these diseases are unknown. However, scientists suspect that they result when people with some genetic factors that predispose them-that is, put them at greater risk-are exposed to certain environmental triggers. Some of those triggers include food, drugs, biologics (such as a vaccine to prevent disease), medical devices and occupational exposures. Patients, including children under 18, who had a diagnosis of myositis, a related autoimmune disease, or a rheumatic disease, as well as their blood relatives, and control subjects who were in good health have already been recruited for this study. The evaluation consisted of one outpatient visit to the patient's doctor, who will obtain a medical history and conduct a physician examination. Patients spent 20 to 30 minutes to answer written questions. There was a blood collection of about 6 tablespoons. If there was a major change in patients' medical conditions, they were asked to return for a second outpatient evaluation to determine whether any of the blood tests or antibodies, which show an immune response, had changed. Blood samples collected will be used only for laboratory research studies. The samples have been identified by a code, and all other identifying information have been removed. During the study, researchers will explore possible environmental risk factors, including studies of infectious and non-infectious agents. They will analyze the blood for genetic markers and test for certain antibodies. Laboratory results will be evaluated as they relate to the signs, symptoms, and severity of patients' illnesses. That would help researchers to better understand patterns of the diseases and the outcomes for patients. This study will not have a direct benefit for patients. However, results from the study can be made available to patients' doctors for use in appropriate care. Also, it is hoped that information gained can help other people in the future. ...
Genetic and Family Studies of Inherited Muscle Diseases
DermatomyositisGlycogen Storage Disease Type II3 moreThe 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.