A Study of Environmental Risk Factors for the Anti-Synthetase Syndrome

Overview

About this study

Like other complex diseases, autoimmune diseases are the result of numerous causes, including genetic and environmental factors. Some researchers believe that people who are susceptible to autoimmune disorders develop them when the body reacts to environmental or other factors by creating white blood cells that attack the body s own tissues, which then progresses to autoimmune diseases. These immune-triggered disorders can overlap with one another to some extent, but most autoimmune diseases have certain distinct triggers. - The autoimmune disorder myositis weakens the muscles and may cause other health problems. Environmental exposures associated with myositis include ultraviolet radiation, stressful life events and muscle overexertion, collagen implants, infections such as retroviruses and streptococci bacteria, and certain drugs and chemicals. Some individuals with myositis also produce proteins in the blood called autoantibodies that react with certain parts of the person s own cells, called synthetases, which are involved in making new proteins. A syndrome called the anti-synthetase syndrome, which includes myositis and lung disease, is associated with having the anti-synthetase autoantibodies. Researchers are interested in studying differences in environmental exposures in individuals with myositis. This study is being conducted to determine if persons with the anti-synthetase syndrome have had different environmental exposures before disease onset compared with other patients with myositis who do not have this syndrome and also compared with healthy volunteers.

Participation eligibility

Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. There is no guarantee that every individual who qualifies and wants to participate in a trial will be enrolled. Contact the study team to discuss study eligibility and potential participation.

Inclusion Criteria

Diagnosis of myositis based on criteria for possible, probable or definite PM or DM, with or without other connective tissue diseases, documented within 24 months of enrollment (using the most recent diagnosis date to define the 24 month period).
CXR to assess possible ILD and assign the subject to the presumptive anti-synthetase positive or negative category if clinically indicated.
Children must be at least two years of age .
Able and willing to give informed consent, to complete the questionnaires and to donate blood samples
- in case of children at least 2 years of age but < 18 years of age , parent/legal guardian must be willing and able to provide informed consent and child must provide assent
Controls can be friends or cousins of the anti-synthetase positive myositis patient, or, if not available, volunteers from the general community (such as the NIH Normal volunteer program), gender- and age- (within 5 years for minors and within 10 years for adults) matched, who is living as close as possible to the geographic area of the myositis patient.
Controls should be without a recognized autoimmune disease or ILD.
Able and willing to give informed consent, to complete the questionnaires and to donate blood samples
- in case of children 2 years of age but < 18 years of age, parent/legal guardian must be willing and able to provide informed consent and child must provide assent.

Exclusion Criteria

Cancer-associated myositis (cancer diagnosed within 2 years of the diagnosis of myositis).
Inclusion body myositis.
Myositis that has clearly developed as the result of a drug, toxin or other exposure and has resolved after discontinuation of the exposure to that agent.
Children less than 2 years of age.
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.
Not able or willing to give informed assent or consent

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