Studies in the Natural History and Pathogenesis of Childhood-Onset and Adult-Onset Idiopathic Inflammatory Myopathies
Overview
- Phase
- Not Applicable
- Intervention
- Healthy Volunteer
- Conditions
- Dermatomyositis
- Sponsor
- National Institute of Environmental Health Sciences (NIEHS)
- Enrollment
- 1200
- Locations
- 8
- Primary Endpoint
- Physician Global Assessment Form
- Status
- Recruiting
- Last Updated
- 3 days ago
Overview
Brief Summary
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:
- 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
- Skin assessment, possibly including photographs of lesions and a skin biopsy (removal of a small skin sample under local anesthetic)
- Magnetic resonance imaging (scans that use magnetic fields to visualize tissues) of leg muscles
- 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
- 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
- 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
- Electrocardiogram (measurement of the electrical activity of the heart) and, possibly, echocardiogram (ultrasound imaging of the heart)
- Endocrine evaluation
- Eye examination, in patients with vision loss or other eye symptoms
- 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.
- Muscle ultrasound.
- Electromyography (record of the electrical activity of muscles)
- 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.
Detailed Description
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.
Investigators
Eligibility Criteria
Inclusion Criteria
- •ELIGIBILITY CRITERIA:
- •Patients with Myositis:
- •Inclusion Criteria:
- •All patients should have age range 2-100 years.
- •All Patients admitted to the study must satisfy at least one of the following criteria among item 1 (A or B or C) OR item 2 (A or B or C) AND item 3:
- •Patient has documented evidence that he/she meets criteria for an idiopathic inflammatory myopathy
- •A. Possible, probable or definite adult or juvenile polymyositis or dermatomyositis by Bohan and Peter criteria
- •B. Possible, probable or definite inclusion body myositis by Griggs and/or ENMC criteria
- •C. Has an idiopathic inflammatory myopathy that does not meet these criteria, including common or rarer forms of myositis such as cancer- associated, focal, orbital, eosinophilic myositis, macrophagic, proliferative, etc.
- •Has one of the following conditions:
Exclusion Criteria
- •Patients \<2 years or \>100 years will be excluded.
- •Any conditions in which the drawing of the amount of blood required or undergoing procedures needed for the study is not deemed medically appropriate by the treating physician or the principal investigator.
- •For females of childbearing potential who are pregnant, they will be permitted to enroll, but would be excluded from radiographic procedures involving radiation or greater than minimal risk procedures, including obtaining biopsies.
- •Relatives of Patients with Myositis:
- •For patients with at least one first-degree relative affected with IIIM, all available first-degree relatives (affected and unaffected) are eligible to participate in the genetics portion of the protocol. For patients in which two or more first degree relatives are affected with myositis, any available close relatives (affected or unaffected parents, siblings or children, as well as grandparents and grandchildren, or other close relatives, when available) are eligible to participate in the genetics portion of the protocol.
- •Inclusion criteria:
- •First or more distant relative of a proband with myositis, for genetics studies.
- •Ability of patient or parent/guardian to give informed consent to all or part of the study after full information has been provided.
- •Exclusion Criteria:
- •Patients \<2 years or \>100 years will be excluded.
Arms & Interventions
Healthy Volunteer
Healthy subject who has not received anti-inflammatory medications and should not has undergone surgery or any major trauma within the 8 weeks prior to enrollment.
Myositis Patient
Patient should have documented evidence that he/she meets criteria for an idiopathic inflammatory myopathy (IIM)
Non-Myositis Patient
Patients with other myopathies/autoimmune diseases/complications similar to myositis patients. Close relatives of IIM patients (affected or unaffected siblings, children, parents, grandparents)
Outcomes
Primary Outcomes
Physician Global Assessment Form
Time Frame: At enrollment and each study visit
1- A secure internet accessible IMACS Outcomes Data Repository of core set disease activity, damage and quality of life measures has been established for adult and juvenile myositis patients as part of IMACS. 2- Compare the clinical and immunopathogenic features of childhood and adult IIM to determine the differences of IIM in these two populations referred to NIH 3- investigate the immunopathogenesis and immunogenetics of IIM.