The MYORISK Study (Environmental Risk Factors for the Anti-Synthetase Syndrome)

Study Background

This study intends to investigate the genetic and environmental risk factors involved in the development of myositis, an autoimmune muscle disease that causes chronic muscle weakness. Adults and children diagnosed with myositis within the last year may enroll by completing questionnaires and donating blood and urine samples.

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.

Eligibility Criteria

• Adults or children who have been diagnosed with polymyositis or dermatomyositis within the last two years.
• Healthy friends or cousins of individuals with polymyositis or dermatomyositis.

The inclusion criteria for enrollment of myositis subjects are:

• 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.
• Able and willing to give informed consent, to complete the questionnaires and to donate blood samples (in case of children grester than 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).

The inclusion criteria for controls are:

• 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), 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 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).

Principal Investigator

Adam I. Schiffenbauer, M.D.
Deputy Head and Associate Research Physician

Tel 301-451-6270
adam.schiffenbauer@nih.gov

Curriculum Vitae (300KB)

10 Center Dr
NIHBC 10 - CLINICAL CENTER - MAGNUSON
Bethesda, MD 20892-1627

Lead Associate Investigator

Lisa Rider, M.D.
Head and Senior Clinician

Tel 301-451-6272
riderl@mail.nih.gov

Curriculum Vitae Lisacv Rider (479KB)

10 Center Dr
NIHBC 10 - CRC - HATFIELD
Bethesda, MD 20892-1301