Studies of the Natural History and Pathogenesis of Autoimmune/Connective Tissue Diseases

NCT00341679 | Completed

• 2 other identifiers: 99990520005-E-N200
• Study Type: observational
• Target: 719
• Locations: 1 country
• Sites: 1

Brief Summary

This 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.

Conditions

Autoimmune/Connective Tissue Diseases; Idiopathic Inflammatory Myopathies; Polymyositis; Dermatomyositis

Keywords

Autoimmune Diseases; Polymyositis; Dermatomyositis; Idiopathic Inflammatory Myopathies; CONNECTIVE TISSUE DISEASES; Natural History; IIM

Outcome Measures

Primary Outcomes (2)

• Myositis Autoantibodies

  Individuals who develop autoimmune diseases are associated with self-reactive autoantibodies. The clinical course of disease in IIM appears to be more closely related to the presence of certain myositis-specific autoantibodies

  at the time of enrollment visit

• Human leukocyte antigen

  The efforts to identify candidate genes will initially include polymorphic MHC and non-MHC immune response genes such as those for HLA,cytokines and chemokines with the strongest known associations with autoimmunity

  at the time of enrollment visit

Secondary Outcomes (3)

• Environmental Exposures

  ongoing

• Clinical Phenotyping of

  ongoing

• Pathogenesis of the Disease

  ongoing

Study Arms (3)

Family Members

Family members need to be blood relatives of the proband with the diagnosis of an autoimmune disease

IIM Patient

Adult and pediatric patients with diagnosis of myositis or a related autoimmune or rheumatic disorder (by Bohan and Peter criteria, American College of Rheumatology, or other criteria).

Normal volunteers

gender and race-matched to a subset of autoimmune subjects as controls. Should be without any autoimmune disease.

Eligibility Criteria

• Age: 2 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

children (\< 18 years of age) or adults (18 or more years of age) require a diagnosis of myositis or a related autoimmune or rheumatic disorder (by Bohan and Peter, American College of Rheumatology, or other criteria. Family members need to be blood relatives of the proband with the diagnosis of an autoimmune disease. Selected patients with other myopathies or with undefined illnesses who may have weakness, myalgias, or an elevated CK may be evaluated to establish a diagnosis. Normal volunteers will be gender- and race-matched to a subset of autoimmune subjects as controls needed for specific studies. Normal volunteers should be in good health, without a recognized systemic rheumatic disorder or other autoimmune disease, and should not be taking anti-inflammatory medicines, including non-steroidal anti-inflammatory drugs (NSAIDs) or corticosteroids.

You may qualify if:

• For the primary autoimmune and myositis study populations, children (less than 18 years of age) or adults (18 or more years of age) require a diagnosis of myositis or a related autoimmune or rheumatic disorder.
• Family members need to be blood relatives of the proband with the diagnosis of an autoimmune disease.
• Normal volunteers will be gender- and race-matched to a subset of autoimmune subjects as controls needed for specific studies.
• Normal volunteers should be in good health, without a recognized systemic rheumatic disorder or other autoimmune disease, and should not be taking anti-inflammatory medicines, including nonsteroidal anti-inflammatory drugs (NSAIDs) or corticosteroids.
• For all subjects: ability of the subject or parents/legal guardians to provide informed consent to all aspects of the study after full protocol information is provided.
• Patients enrolling in the MYOVISION national myositis patient registry were diagnosed with adult or juvenile DM, PM, IBM, or another form of myositis; resided within the United States or Canada at the time of diagnosis, and provided informed consent and completed the study questionnaires, either on paper or online. In the case of children \<18 years of age, the parent or legal guardian provided informed consent and completed the study questionnaires.

You may not qualify if:

• medical illness that in the judgment of the investigators does not allow safe blood draws or other clinical evaluations needed for study participation;
• cognitive impairment;
• inability to give informed assent or consent.
• Recognized systemic rheumatic disorder or other autoimmune disease, history of cancer or taking anti-inflammatory medicines, including nonsteroidal anti-inflammatory drugs (NSAIDs) or corticosteroids, severe trauma, infections or vaccinations within 8 weeks.

Sponsors & Collaborators

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

Study Sites (1)

National Institute of Environmental Health Sciences (NIEHS), 9000 Rockville Pike

Bethesda, Maryland, 20892, United States

Location

Related Publications (3)

• Rider LG, Shah M, Mamyrova G, Huber AM, Rice MM, Targoff IN, Miller FW; Childhood Myositis Heterogeneity Collaborative Study Group. The myositis autoantibody phenotypes of the juvenile idiopathic inflammatory myopathies. Medicine (Baltimore). 2013 Jul;92(4):223-243. doi: 10.1097/MD.0b013e31829d08f9.

  PMID: 23877355 BACKGROUND

• O'Hanlon TP, Carrick DM, Targoff IN, Arnett FC, Reveille JD, Carrington M, Gao X, Oddis CV, Morel PA, Malley JD, Malley K, Shamim EA, Rider LG, Chanock SJ, Foster CB, Bunch T, Blackshear PJ, Plotz PH, Love LA, Miller FW. Immunogenetic risk and protective factors for the idiopathic inflammatory myopathies: distinct HLA-A, -B, -Cw, -DRB1, and -DQA1 allelic profiles distinguish European American patients with different myositis autoantibodies. Medicine (Baltimore). 2006 Mar;85(2):111-127. doi: 10.1097/01.md.0000217525.82287.eb.

  PMID: 16609350 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

MeSH Terms

Conditions

Connective Tissue Diseases; Myositis; Polymyositis; Dermatomyositis; Autoimmune Diseases

Condition Hierarchy (Ancestors)

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

Study Officials

• Lisa G Rider, M.D.

  National Institute of Environmental Health Sciences (NIEHS)

  PRINCIPAL INVESTIGATOR

Study Design

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

Study Record Dates

• First Submitted: June 19, 2006
• First Posted: June 21, 2006
• Study Start: July 13, 2005
• Last Updated: February 17, 2026

Record last verified: 2025-07-08

Locations

US (1)