Natural History of Inflammatory Muscle Diseases

National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)500 enrolled

Overview

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.

Study Description: This is an observational study to characterize the different types of inflammatory myopathies, understand their etiology, pathogenesis, prognosis, and response to different treatments. Objectives: Primary objective: Define the different types of inflammatory muscle diseases, their etiology, pathogenesis, prognostic factors, and response to different treatments. Secondary objectives: Study different diagnostic modalities that may help to diagnose and monitor the evolution of the disease in patients with myositis. Endpoints: Primary endpoint: Severity of muscle, skin, pulmonary, and joint involvement. Study of the immune dysregulation, transcriptomic changes, and genetic modifications in patients with inflammatory muscle diseases. Secondary endpoints: Utility of standard of care laboratory, radiologic, electrophysiologic, and clinical studies to diagnose and monitor the evolution of the disease in patients with myositis.

Study Type

OBSERVATIONAL

Enrollment

500

Conditions

Eligibility

Sex: ALLMin age: 12 YearsMax age: 120 YearsHealthy volunteers:

Medical Language ↔ Plain English

* INCLUSION CRITERIA: In order to be eligible to participate in this study, an individual must meet all of the following criteria: 1\. Ability of subject, or Legally Authorized Representative (LAR) to understand and the willingness to sign a written informed consent and/or assent document. 2a. Patients are adults and minors of age 12 or older, with possible inflammatory myopathy (suspected or confirmed) OR 2b. Healthy volunteers will be adults aged 18 or older. EXCLUSION CRITERIA: 1\. Unwilling to participate in research studies or to provide research samples or data.

Outcomes

Primary Outcomes

Define the different types of inflammatory muscle diseases, their etiology, pathogenesis, prognostic factors, and response to different treatments.

Severity of muscle, skin, pulmonary, and joint involvement. Study of the immune dysregulation, transcriptomic changes, and genetic modifications in patients with inflammatory muscle diseases.

Time frame: End of each visit

Secondary Outcomes

Study different diagnostic modalities that may help to diagnose and monitor the evolution of the disease in patients with myositis.

Utility of standard of care laboratory, radiologic, electrophysiologic, and clinical studies to diagnose and monitor the evolution of the disease in patients with myositis.

Time frame: at baseline