Adult and Juvenile Myositis

NCT00017914 | Recruiting

• 2 other identifiers: 94016594-E-0165
• Study Type: observational
• Target: 1,200
• Locations: 1 country
• Sites: 4

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:

1. 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. 2.Skin assessment, possibly including photographs of lesions and a skin biopsy (removal of a small skin sample under local anesthetic)
3. 3.Magnetic resonance imaging (scans that use magnetic fields to visualize tissues) of leg muscles
4. 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. 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. 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. 7.Electrocardiogram (measurement of the electrical activity of the heart) and, possibly, echocardiogram (ultrasound imaging of the heart)
8. 8.Endocrine evaluation
9. 9.Eye examination, in patients with vision loss or other eye symptoms
10. 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. 11.Muscle ultrasound.
12. 12.Electromyography (record of the electrical activity of muscles)
13. 13.Muscle or skin biopsy (removal of a small piece of muscle tissue for microscopic examination)

Conditions

Dermatomyositis; Polymyositis; Inclusion Body Myositis

Keywords

Adult and Pediatric Disease; Autoimmunity Pathogenesis; Disease Assessment; Genetic and Environmental Risk Factors; Myositis; Natural History

Outcome Measures

Primary Outcomes (1)

• Physician Global Assessment Form

  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.

  At enrollment and each study visit

Study Arms (3)

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)

Eligibility Criteria

• Age: 2 Years - 100 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

1- Any patient who has documented evidence that he/she meets criteria for an idiopathic inflammatory myopathy; 2- Any patient who has been diagnosed with inflammatory/non-inflammatory myopathies, mimicking and related skin disorders, disorders of complications of myositis, 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 or laboratory abnormalities who do not have an established diagnosis of myositis for them to be evaluated to establish a diagnosis; 3- Close relatives of patients with at least one first-degree relative affected with IIIM (affected or unaffected siblings, children, parents, grandparents) can participate in the genetics portion of the protocol; 4- Healthy control subjects.

You may qualify if:

• 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
• 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:
• A. 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

You may not qualify if:

• 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.
• 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.
• 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:
• 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

Sponsors & Collaborators

• National Institute of Environmental Health Sciences (NIEHS): lead

Study Sites (4)

Emory University

Atlanta, Georgia, 30322, United States

COMPLETED

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

RECRUITING

NIEHS Clinical Research Unit (CRU)

Research Triangle Park, North Carolina, 27709, United States

RECRUITING

Texas Scottish Rite Hospital

Dallas, Texas, 75219, United States

COMPLETED

Related Publications (7)

• Miller FW, Lamb JA, Schmidt J, Nagaraju K. Risk factors and disease mechanisms in myositis. Nat Rev Rheumatol. 2018 Apr 20;14(5):255-268. doi: 10.1038/nrrheum.2018.48.

  PMID: 29674613 BACKGROUND

• Miller FW, Chen W, O'Hanlon TP, Cooper RG, Vencovsky J, Rider LG, Danko K, Wedderburn LR, Lundberg IE, Pachman LM, Reed AM, Ytterberg SR, Padyukov L, Selva-O'Callaghan A, Radstake TR, Isenberg DA, Chinoy H, Ollier WE, Scheet P, Peng B, Lee A, Byun J, Lamb JA, Gregersen PK, Amos CI; Myositis Genetics Consortium. Genome-wide association study identifies HLA 8.1 ancestral haplotype alleles as major genetic risk factors for myositis phenotypes. Genes Immun. 2015 Oct;16(7):470-80. doi: 10.1038/gene.2015.28. Epub 2015 Aug 20.

  PMID: 26291516 BACKGROUND

• Rider LG, Aggarwal R, Machado PM, Hogrel JY, Reed AM, Christopher-Stine L, Ruperto N. Update on outcome assessment in myositis. Nat Rev Rheumatol. 2018 May;14(5):303-318. doi: 10.1038/nrrheum.2018.33. Epub 2018 Apr 12.

  PMID: 29651119 BACKGROUND

• Sparling AC, Ward JM, Sarkar K, Schiffenbauer A, Farhadi PN, Smith MA, Rahman S, Zerrouki K, Miller FW, Li JL, Casey KA, Rider LG. Neutrophil and mononuclear leukocyte pathways and upstream regulators revealed by serum proteomics of adult and juvenile dermatomyositis. Arthritis Res Ther. 2024 Nov 11;26(1):196. doi: 10.1186/s13075-024-03421-7.

  PMID: 39529136 BACKGROUND

• Burbelo PD, Huapaya JA, Khavandgar Z, Beach M, Pinal-Fernandez I, Mammen AL, Chiorini JA, Noroozi Farhadi P, Miller FW, Schiffenbauer A, Sarkar K, Warner BM, Rider LG. Quantification of autoantibodies using a luminescent profiling method in autoimmune interstitial lung disease. Front Immunol. 2024 Oct 25;15:1462242. doi: 10.3389/fimmu.2024.1462242. eCollection 2024.

  PMID: 39524452 BACKGROUND

• Sherman MA, Noroozi Farhadi P, Pak K, Trieu EP, Sarkar K, Targoff IN, Neely ML, Mammen AL, Rider LG; Childhood Myositis Heterogeneity Collaborative Study Group. Myositis-Associated Autoantibodies in Patients With Juvenile Myositis Are Associated With Refractory Disease and Mortality. Arthritis Rheumatol. 2024 Jun;76(6):963-972. doi: 10.1002/art.42813. Epub 2024 Mar 12.

  PMID: 38272842 BACKGROUND

• Ward JM, Ambatipudi M, O'Hanlon TP, Smith MA, de Los Reyes M, Schiffenbauer A, Rahman S, Zerrouki K, Miller FW, Sanjuan MA, Li JL, Casey KA, Rider LG. Shared and Distinctive Transcriptomic and Proteomic Pathways in Adult and Juvenile Dermatomyositis. Arthritis Rheumatol. 2023 Nov;75(11):2014-2026. doi: 10.1002/art.42615. Epub 2023 Aug 13.

  PMID: 37229703 BACKGROUND

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Dermatomyositis; Polymyositis; Myositis, Inclusion Body; Myositis

Condition Hierarchy (Ancestors)

Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Skin Diseases

Study Officials

• Lisa G Rider, M.D.

  National Institute of Environmental Health Sciences (NIEHS)

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Lisa G Rider, M.D.

CONTACT

(301) 451-6272; riderl@mail.nih.gov

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 19, 2001
• First Posted: June 20, 2001
• Study Start: June 7, 1995
• Last Updated: April 29, 2026

Record last verified: 2026-02-10

Data Sharing

• IPD Sharing: Will not share

Locations

US (4)