Adult and Juvenile Myositis

Sponsor

National Institute of Environmental Health Sciences (NIEHS) (NIH)

Overall Status

Recruiting

CT.gov ID

NCT00017914

Collaborator

(none)

1,200

Enrollment

Locations

300

Patients Per Site

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Dermatomyositis Polymyositis Inclusion Body Myositis

Detailed Description

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.

Study Design

Study Type:

Observational

Anticipated Enrollment :

1200 participants

Observational Model:

Cohort

Time Perspective:

Other

Official Title:

Studies in the Natural History and Pathogenesis of Childhood-Onset and Adult-Onset Idiopathic Inflammatory Myopathies

Actual Study Start Date :

Jun 7, 1995

Arms and Interventions

Arm	Intervention/Treatment
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)

Outcome Measures

Primary Outcome Measures

Physician Global Assessment Form [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.

Eligibility Criteria

Criteria

Ages Eligible for Study:

2 Years to 100 Years

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

Yes

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

Possible, probable or definite adult or juvenile polymyositis or dermatomyositis by Bohan and Peter criteria
Possible, probable or definite inclusion body myositis by Griggs and/or ENMC criteria
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:

2A. Have a disorder that is related to an idiopathic inflammatory myopathy, that may include:

Inflammatory and non-inflammatory myopathies:
Mimicking and related skin disorders:
Disorders of the complications of myositis (including interstitial lung disease, calcifying disorders, cardiomyopathies, etc.):
Overlapping autoimmune diseases that may be associated with myositis
Patients with muscle and/or skin inflammation and documented environmental exposures:
Patients with myositis or complications of myositis and suspected genetic disorders:
Patients with undifferentiated connective tissue disease
Patients with signs or symptoms of myositis (such as weakness, skin rashes, interstitial lung disease) or laboratory abnormalities (such as elevated CK or muscle biopsy with myopathic features) who do not have an established diagnosis of myositis for them to be evaluated to establish a diagnosis

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.
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.
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.
Pregnancy (females of childbearing potential). Verbal confirmation they are not pregnant.

Healthy Volunteers:

Inclusion Criteria:

Healthy volunteer subjects for biomarker studies will be gender and age-matched (within 5 years) with a myositis patient, as reasonably close as possible.
Volunteer is not related to a myositis patient who is enrolled in the study
Volunteer is in good health, without a recognized systemic rheumatic disorder, autoimmune disease, immune medicated disease, or cancer, and is not taking any anti-inflammatory medicines, including nonsteroidal anti-inflammatory drugs (NSAIDS) or corticosteroids
Volunteer or volunteer s parent/guardian could give assent/informed consent to all or part of the study after full information has been provided

Exclusion Criteria:

If Any Yes answer patient is not eligible for study

Volunteer has undergone surgery or had a major trauma within the past 2 months
Volunteer used anti-inflammatory medications within the past 8 weeks of enrollment, including not currently receiving nonsteroidal anti-inflammatory drugs or corticosteroids
Volunteer has been diagnosed with a chronic infectious illness, inflammatory disease, malignancy, cardiac or pulmonary disease, muscle disorder, clotting disorder, metabolic disorder, systemic rheumatic or autoimmune disease, or immune-mediated disease
Volunteer is pregnant (verbally screened for females of childbearing potential)
Volunteer has a medical illness that in the judgement of the investigators does not allow safe blood draws or other clinical evaluations needed for study participation
Volunteer is cognitively impaired
Volunteer and or the volunteer s parents/legal guardian is unable or unwilling to give informed consent/assent
Volunteer has functional limitations
Volunteer has joint or muscle problems

Note that the following screening activities may be performed to determine subject eligibility:

Email, written, or telephone communications with prospective subjects
Review of existing medical records
Review of existing imaging studies
Review of existing photographs or videos
Review of existing pathology specimens/reports from a specimen obtained for diagnostic purposes

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	Emory University	Atlanta	Georgia	United States	30322
2	National Institutes of Health Clinical Center, 9000 Rockville Pike	Bethesda	Maryland	United States	20892
3	NIEHS Clinical Research Unit (CRU)	Research Triangle Park	North Carolina	United States
4	Texas Scottish Rite Hospital	Dallas	Texas	United States	75219