Environmental Risk Factors for the Anti-synthetase Syndrome

Description

Background: * 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. Objectives: - To determine whether selected infectious and noninfectious environmental exposures are more common in individuals who have myositis with the anti-synthetase syndrome, compared with healthy volunteers. Eligibility: - Individuals who have been diagnosed with myositis (with or without anti-synthetase autoantibodies), and healthy volunteers without autoimmune disorders. Design: * Participants will be screened with a full medical history and physical examination, and will provide blood, urine and house dust samples. * Participants will complete questionnaires about their medical history and the types of exposures they have had at work, at home, and elsewhere. Participants who have myositis will also be asked about certain infections, heavy exercise or physical exertion, sun exposure, tobacco and alcohol use, and stressful events prior to being diagnosed with the disease. Healthy volunteers will be asked about the same exposures before the date of diagnosis of disease of the myositis subject to which they have been matched. * Participants will receive a kit that contains instructions and a filter to be put onto their vacuum cleaner to collect house dust in the bedroom. This dust will be kept for possible future analyses of infectious or toxic agents based on the other results from the study. * Individuals with myositis will have other tests as clinically indicated, including lung function tests and imaging studies.

Conditions

Myositis, Dermatomyositis, Polymyositis, Juvenile Dermatomyositis, Juvenile Polymyositis

Study Overview

Study Details

Study overview

Background: * 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. Objectives: - To determine whether selected infectious and noninfectious environmental exposures are more common in individuals who have myositis with the anti-synthetase syndrome, compared with healthy volunteers. Eligibility: - Individuals who have been diagnosed with myositis (with or without anti-synthetase autoantibodies), and healthy volunteers without autoimmune disorders. Design: * Participants will be screened with a full medical history and physical examination, and will provide blood, urine and house dust samples. * Participants will complete questionnaires about their medical history and the types of exposures they have had at work, at home, and elsewhere. Participants who have myositis will also be asked about certain infections, heavy exercise or physical exertion, sun exposure, tobacco and alcohol use, and stressful events prior to being diagnosed with the disease. Healthy volunteers will be asked about the same exposures before the date of diagnosis of disease of the myositis subject to which they have been matched. * Participants will receive a kit that contains instructions and a filter to be put onto their vacuum cleaner to collect house dust in the bedroom. This dust will be kept for possible future analyses of infectious or toxic agents based on the other results from the study. * Individuals with myositis will have other tests as clinically indicated, including lung function tests and imaging studies.

Environmental Risk Factors for the Anti-Synthetase Syndrome

Environmental Risk Factors for the Anti-synthetase Syndrome

Condition
Myositis
Intervention / Treatment

-

Contacts and Locations

Miami

University of Miami Hospital, Miami, Florida, United States, 33101

Baltimore

Johns Hopkins University, Baltimore, Maryland, United States, 21205

Bethesda

National Institutes of Health Clinical Center, Bethesda, Maryland, United States, 20892

Rockville

Mid-Atlantic Kaiser Permanente, Rockville, Maryland, United States, 20853

Boston

Brigham and Women's Hospital, Boston, Massachusetts, United States, 02115

Rochester

Mayo Clinic, Rochester, Rochester, Minnesota, United States, 55905

Research Triangle Park

NIEHS Clinical Research Unit (CRU), Research Triangle Park, North Carolina, United States, 27709

Pittsburgh

University of Pittsburgh, Pittsburgh, Pennsylvania, United States, 15261

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

  • 1. 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).
  • 2. CXR to assess possible ILD and assign the subject to the presumptive anti-synthetase positive or negative category if clinically indicated.
  • 3. Children must be greater than two years of age.
  • 4. Able and willing to give informed consent, to complete the questionnaires and to donate blood samples (in case of children greater than 2 years of age but \<18 years of age, parent/legal guardian must be willing and able to provide informed consent and child will provide assent according to child s maturity level and understanding).
  • 1. Cancer-associated myositis (cancer diagnosed within 2 years of the diagnosis of myositis).
  • 2. Inclusion body myositis.
  • 3. 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.
  • 4. Children less than 2 years of age.
  • 1. Friends or, if friends are not available, cousins of the anti-synthetase-positive myositis patient, or, if friends or cousins are not available, volunteers from the general community (such as the NIH Normal volunteer program), race- gender- and age- (within 5 years for minors and within 10 years for adults) matched, and when possible who is living as close as possible to the geographic area of the myositis patient.
  • 2. Controls should be without a recognized autoimmune disease or ILD.
  • 3. Able and willing to give informed consent, to complete the questionnaires and to donate blood samples (in case of children greater than 2 years of age but \<18 years of age, parent/legal guardian must be willing and able to provide informed consent) and child will provide assent according to child maturity level and understanding).
  • 1. Medical illness that in the judgment of the investigators does not allow safe blood draws or other clinical evaluations needed for study participation.
  • 2. Cognitive impairment.
  • 3. Not able or willing to give informed assent or consent.
  • 4. Children less than 2 years of age.
  • 5. Patients who at their reference date were not in the US or Canada
  • 6. Individuals currently incarcerated
  • 1. It has no impact on study procedures or tests.
  • 2. It may be one of the viral risk factors we are investigating.

Ages Eligible for Study

2 Years to 100 Years

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

Yes

Collaborators and Investigators

National Institute of Environmental Health Sciences (NIEHS),

Adam I Schiffenbauer, M.D., PRINCIPAL_INVESTIGATOR, National Institute of Environmental Health Sciences (NIEHS)

Study Record Dates

N/A